Classes Notes

Principles of Inheritance and Variation

Introduction, History of Gregor Mendel, Mendel’s
Experiments

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 Key Takeaways

Introduction to genetics 1

2 History of Gregor Mendel

Mendel’s experiments 3

Experimental technique

Summary
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 Recall! Cell - The Fundamental Unit of Life

Nucleus

Cell
membrane

Golgi body
Mitochondria

● Every organism is ● Cells are made up of

made up of cells. organelles.

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 Recall! Genetic Material

Chromosome

Chromatin
fiber
(Intermediate
condensed
form)

● Genetic material is
packed into
chromosomes during
metaphase of cell
division. DNA (Least condensed form)

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 Recall! DNA - Sequence of Nucleotides
DNA (Deoxyribonucleic acid)

G C
C G
A T
G C

A
G C
Y
● DNA is the genetic material that
C G
Y A consists all the informed for
G
A T
C
producing proteins.
C
A T
G
● Sequence of nucleotides in DNA
codes for specific proteins.

P
S

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 Introduction to Genetics

Gene
● Distinct sequence of nucleotides of DNA that codes for a specific protein
● Physical and functional unit of heredity

Heredity
● Transmission of genes from one generation to another

Inheritance
● The pattern in which the genes are transferred from one generation to another

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 Genetic Terms

Genetics
● Branch of biology that deals with the study of genes and its inheritance

Character
● A heritable feature that varies among individuals

Trait
● Each variant of a character

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 What is a gene?

A A protein

B A lipid

C Unit of nuclear membrane

D Unit of heredity

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 What is a gene?

A A protein

B A lipid

C Unit of nuclear membrane

D Unit of heredity

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 History of Gregor Mendel

● Mendel was born in 1822 to a poor

farmer family in Austria. He received
agricultural training in childhood
and was good in academics.

● Later, he got trained to become a

scientist. After completing his
studies, he became a monk.

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 History of Gregor Mendel

● At the age of 21, he joined the

monastery, where he got the name
Gregor.

● Mendel spent much of his time in the

backyard of the monastery because of
his childhood inclination towards plants
and agriculture.
● Among all the different kinds of plants,
the pea plant caught his attention.
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 Pre-Mendelian Era – Blending Theory
● During the 1800s, people widely believed in the blending theory. It states that
“offspring of 2 parents would always have the average or mix of the traits of
the parents”.
● For example, mixing of violet and white flower bearing parents would give a
pale violet or pink coloured offspring.

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 Pre-Mendelian Era – Blending Theory
Theories of blending inheritance

Moist vapour theory (Pythagoras)

Fluid theory (Aristotle)

Preformation theory (Swammerdam)

Particulate theory (Maupertius)

Theory of pangenesis (Darwin)

Theory of continuity of germplasm (Weismann)

Mendel had doubts about the blending theory. So, to test this, He started to
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experiment with his garden pea plants.
 Mendel’s Experiments
Pea plant (Pisum sativum) – experimental model plant

● Has life span of one year

● Requires less maintenance and labour

● Multiple plants can be grown in small area

● Availability of pure varieties

● Exhibits a variety of visible characters with

contrasting traits

● Self-fertilising plant and hence mating can be

controlled easily
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 Pea Plant – Experimental Model Plant

Flower Leaf
Flower
colour size
● It has chromosome
size Pod Seed number 2n = 14.
shape size

● Mendel originally found

Stem Leaf Flower that pea plants had a lot
colour position
colour Seed Pod of different characters.
shape size

● Some characters caught

Pod Seed his attention more than
colour colour the others.
Leaf Stem Peduncle
position length length

Different characters of pea plant

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 Pea Plant – Experimental Model Plant

Stem Flower Flower Pod Pod Seed Seed

Tal
Short Violet
White Axial
Terminal Green
Yellow Constricted
Inflated Yellow
Green Round
Wrinkled
length colour position colour shape colour shape
l

Out of so many different characters, Mendel focused on these 7

characters.

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 Pea Plant – Experimental Model Plant

Tall pea plant Short pea plant Violet flower White flower Axial flower Terminal flower

Yellow Green Round Wrinkled

seed seed seed seed
Green Yellow Inflated Constricted
pod pod pod pod

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 Pea Plant – Experimental Model Plant
Contrasting traits Character

Tall plant Short plant Plant height

Violet flower White flower Flower colour

Axial flower Terminal flower Position of flower

Green pod Yellow pod Pod colour

Inflated pod Constricted pod Pod shape

Yellow seed Green seed Seed colour

Round seed Wrinkled seed Seed shape

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 Pea Plant- Flower
Flower structure

Stigma
Anther Style
Stamen
Filament Ovules Carpel
in ovary

● Pea flower is bisexual.

○ It contains both male and female reproductive structures
enclosed in the innermost two petals.
● It is self-fertilising in nature.
● Controlling mating in such flowers is easier because it can
avoid contamination from other pollens.
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 Experimental Technique

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 Mendel’s Experiment
Procedure

Selection of pure parent plants

Hybridisation of pure plants for F1 generation

Self-breeding in hybrid plants for F2 and F3 generations

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 Controlled Mating - Experimental Technique

Step 1
Donor ● Stamens of the recipient
Removal flower flower were removed making
of stamens it female flower
(emasculation).

Step 2
● Mature pollen grains were
Carpel Transfer of pollen
collected manually from the
donor flower using brush and
Recipient Stamens carefully transferred to the
flower stigma of female recipient
flower (cross-pollination).

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 Controlled Mating - Experimental Technique
Maturation of carpel
into pea pod
Planting the
Polythene bag seeds from the
pod
Tag

Offspring (F1)

Step 3 Step 4
● These flowers were then covered with ● After fertilisation, the carpel matured
transparent bags (bagging) to avoid into a pea pod. Mendel collected the
contamination from any other pollen seeds formed from this fertilisation.
source. ● These seeds were sown and the plants
● It was also labelled (tagging) to avoid grown from these were called F1
any confusion. offspring.

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 Monohybrid Experiment

True breed True breed

X green pea plant
yellow pea plant

Flower Flower

● True breed - Plant which undergoes self fertilisation for several generations, such that their traits
remain unchanged.
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 Monohybrid Experiment

Plants = First filial generation

(F1)

All F1 generation plants bore yellow coloured peas

This was against the blending theory which suggests

that yellow and green colours would blend to give
seeds with intermediate colour.
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 Monohybrid Cross
Mendel continued the experiment further to understand the observations.
Filial 1
generation (F1)

1) Self pollination of F1 generation ● The F2 generation was found to

have both yellow and green pea
2) Seeds obtained from self seeds, in the ratio of 3:1.
pollination of F1
● The characteristic which had
3) Seeds planted disappeared in F1 generation
(green coloured seeds) had
4) F2 or filial 2 generation obtained appeared again in F2 generation.

Plants = Filial 2
generation (F2)
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 Monohybrid Experiment

F2 generation plants F2 generation plants

with yellow peas with green peas

3.01 : 1
● He found that around 6,022 plants had yellow peas and 2,001 plants had green peas.
● The ratio coming to 3:1

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 Which of the following did Mendel consider as
characters?

A Flower colour

B Terminal flowers

C Seed shape

D Both (a) and (c)

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 Which of the following did Mendel consider as
characters?

A Flower colour

B Terminal flowers

C Seed shape

D Both (a) and (c)

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 Monohybrid Cross
Cross between plants differing only in one character.

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 Summary
● Gene
○ Distinct sequence of nucleotides of DNA that codes for a specific protein
○ Physical and functional unit of heredity

● Heredity - Transmission of genes from one generation to another

● Inheritance - The pattern in which the genes are transferred from one
generation to another

● Genetics - Branch of biology that deals with the study of genes and its
inheritance

● Character - A heritable feature that varies among individuals

● Trait - Each variant of a character

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 Summary
● Seven contrasting traits of pea plant were studied by Mendel

Tall pea plant Short pea plant

Violet flower White flower Axial flower Terminal flower

Yellow Green Round Wrinkled

seed seed seed seed
Green Yellow Inflated Constricted
pod pod pod pod

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 Summary
Controlled mating - experimental technique

1. Stamens of the recipient flower were removed making it a female plant (emasculation).
2. Mature pollen grains were collected manually from the donor flower and transferred to
the stigma of female recipient flower (cross-pollination).
3. These flowers were then covered with transparent bags (bagging) to avoid contamination
from any other pollen source.
4. It was also labelled (tagging) to avoid any confusion.
5. After fertilisation, the carpel matured into a pea pod. Mendel collected the seeds formed
from this fertilisation.
6. These seeds were sown and the plants grown from these were called F1 offspring.

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 Summary
● Mendel choose pea plant for the following reasons:
○ Has life span of one year

○ Requires less maintenance and labour

○ Multiple plants can be grown in small area

○ Exhibits a variety of visible characters with contrasting traits

○ Self-fertilising plant and hence mating can be controlled

easily

● Mendel is known as the “Father of Modern Genetics”

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 Classes Notes
Principles of Inheritance and Variation
Significance of Mendel’s Experiments, Reciprocal Cross, Test
Cross and Back Cross

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 Key Takeaways
Significance of Mendel’s
experiments 1

2 Reciprocal cross

Mendel’s observations 3

4 Mendel’s propositions

Test cross and back cross 5

Summary
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 Recall! Traits

Traits

They are different variants of a character

Character Example: Colour of pea seed

Trait Example: Yellow or green coloured pea seeds

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 Recall! Contrasting Traits Used by Mendel

Pod Stem

Inflated Green Axial flowers Long

(Full) (6 - 7 ft)

Terminal flowers Short

Constricted Yellow
(3/4th - 1 ft)

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 Recall! Contrasting Traits used by Mendel

Seed Flower

Round Yellow
Violet

Wrinkled Green White

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 Recall! Procedure for Cross-Pollination

Yellow pea Green pea

plant
X plant

Flower Flower

● The stamens of yellow pea plant are removed, so yellow pea plant has stigma only (female
parent).
● Then pollens of green pea plant are transferred to the stigma of yellow pea plant, making
green pea plant the male parent.
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 Recall! Self-Pollination and Cross-Pollination
Self-pollination from same Self-pollination with
plant but different flower the same flower
2 1

Cross-pollination
from a different plant

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 Significance of Mendel’s Experiments
● Duration of experiments - 8 consecutive years

● Number of plants experimented – approx.

28,000 plants

● Data set – Minimum three generations for each

of the 7 characters

● Obtained interesting results which were

explained mathematically and statistically

● Published his work in 1865

● Concluded that factors are discrete units which

are passed from one generation to another

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 Mendel’s Work Was Not Appreciated!

● Mendel’s work was not widely publicised because of poor

communication.

● Contemporaries believed in ‘blending theory’ and did not

accept his results.

● He was asked to show the physical existence of “factors”.

● Usage of statistics and mathematics to explain biological

phenomena was unaccepted and misunderstood.

● Limited circulation of the “Proceedings of Brunn Natural

Science Society” in which his work was published.
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 Mendel’s Work Was Not Appreciated!
● He failed to reproduce the results on Hawkweed (Hieracium)
undertaken on the suggestion of Nägeli. It was due to
non-availability of pure lines.

● Lack of aggressiveness in his personality was one of the

reasons.

● The scientific world was being rocked at that time by

Darwin’s theory of evolution (Origin of Species, 1859).

● Mendel’s concept of stable, unblending, discrete units or

factors for various traits did not find acceptance from the
contemporaries.

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 Resurfacing Of Mendel’s Work - 1900’s

Hugo de Vries Carl Correns Erich Von Tschermak

● These three scientists independently rediscovered the same

concepts as that of Mendel.

● They were unaware of Mendel’s work initially, but later

acknowledged Mendel as the pioneer.

● Mendel’s work resurfaced and got the appropriate recognition.

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 Mendel - Father of Modern Genetics

● Innovative and unique work by him unravelled

the fundamental laws of inheritance.

● He laid the foundation of modern genetics.

● He is known as the “Father of Modern Genetics”

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 Recall! Monohybrid Cross
Parents: X
Yellow Green

F1 generation: X
Yellow Yellow Yellow Yellow

F2 generation:

3 Yellow : 1 Green
Yellow Yellow Yellow Green
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 Reciprocal Cross

Reciprocal cross
It is a paired cross in which traits of male and female
parents are switched.

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 Reciprocal Cross

Parents: X ● Mendel performed his

experiment with yellow and
green pea seed-bearing
Yellow Green true breeds.
● He first chose yellow pea
plant to be female parent
and green pea plant to be
F1 generation: X male parent.
● He performed the cross and
Yellow Yellow Yellow Yellow obtained F1 progenies.
● He found that all the F1
progenies were yellow.
● When F1 was selfed, he
F2 generation: found that F2 progeny had
yellow and green pea plants
in the ratio 3:1.
Yellow Yellow Yellow Green
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 Reciprocal Cross
● Mendel switched the
Parents: X parents. This time he chose
green pea plant as female
parent and yellow pea plant
Green Yellow
as male parent. He
obtained F1 and F2
progenies.
F1 generation: X ● He observed that
regardless of which plant
was taken as male and
Yellow Yellow Yellow Yellow female parent, the
progenies he obtained
were same.
● All F1 generation were
F2 generation: yellow and F2 generation
had yellow and green pea
plants in the ratio 3:1.
Yellow Yellow Yellow Green
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 Reciprocal Cross

Reciprocal cross yielded same ratio of progeny

F1 = all yellow
F2 = yellow : green = 3:1

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 Mendel’s Observations
● One of the two traits disappeared in F1, which reappeared in F2 in the ratio of 3:1.
● Traits were not blended in progeny.
● Mendel performed similar experiments for the other 6 characters, and observed similar
pattern of inheritance in them as well.

Seed Flower Pod Stem

Round Violet Inflated Green Axial flowers Long

(Full) (6 - 7 ft)

Terminal Short
Wrinkled White Constricted Yellow
flowers (3/4th - 1
ft)
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 Mendel’s Assumptions
● A variety of hypotheses and terms given by Mendel hundreds of years back still
hold true.
● Some of the terms used by him have been renamed but the concept is still
consistent.
Mendel’s terms Current terms
Character Example: Colour Character
of pea

Example: Yellow
Trait Allele
or green colour

Factor Unit of heredity Gene

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 Mendel’s Propositions
● There are two traits for each character.
● Each one of these traits is represented by factors.
● Each progeny receives one factor from each parent.
● One of these traits is dominant and the other is recessive.

Trait

Trait present in both F1 and Trait that disappears in F1

F2 generation but reappears in F2

Dominant trait Recessive trait

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 Mendel’s Propositions

Yellow colour pea Green colour pea

Dominant trait Recessive trait

● In case of cross between, yellow and green coloured pea plants,

yellow can be called as dominant trait since it was present in both F1
and F2.
● While green is recessive trait since it was absent in F1 but reappeared
in F2.
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 Dominants of Other Traits
Dominant Recessive Dominant Recessive

Round Wrinkled Violet White

Dominant Recessive Dominant Recessive

Inflated (Full) Constricted Green pod Yellow pod

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 Dominants of Other Traits

Dominant Recessive Dominant Recessive

Axial flower Terminal flower Tall plant Dwarf plant

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 Did You Know?

Dominant but Recessive but

rare common

● Green pea allele is recessive but today in market, we usually find that most peas
are green rather yellow.
● So green pea is recessive yet common, whereas yellow pea is dominant but rare.
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 Mendel’s Propositions

Dominant trait Recessive trait

● Since the recessive trait reappeared in F2 generation, Mendel thought that

recessive trait must have been there in F1 as well but its presence was
masked by the dominant trait.

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 Mendel’s Propositions
Form 1 Form 2 Form 1 Form 2 Form 1 Form 2

Shape of Colour of
Colour of pod
seed flower

● Hence, he proposed that plants have two copies of each trait.

● For example two copies of traits for colour of pod, two for
shape of seed, two for colour of flower etc.

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 Mendel’s Propositions
Colour of pea

Traits Yellow colour = Y Green colour = y

● He gave the contrasting characters certain symbols

○ First letter of character: Capital= Dominant; Small letter = Recessive

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 Mendel’s Propositions

Parent 1 Trai
t cop
y

Parent 2 o py Offspring
it c
Tra

● Each parent contributes one copy of trait to offspring.

● The type of trait copy that the offspring receives,
decides the overall appearance of offspring.
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 Mendel’s Propositions
Copy 1 Copy 2 Copy 1 Copy 2
● If both the traits
received by offspring
are identical, then it is
known as
homozygous.
White White Violet White
● If received copies are
different or non
identical, then it is
Colour of Colour of known as
flower flower heterozygous.

Homozygous Heterozygous

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 Mendel’s Propositions

S. Character Dominant Recessive Chromosome

No. No.

1 Stem height Tall (T) Dwarf (t) 4

2 Flower colour Violet (V) White (v) 1

3 Flower position Axial (A) Terminal (a) 4

4 Pod shape Inflated (I) Constricted (i) 4

5 Pod colour Green (G) Yellow (g) 5

6 Seed shape Round (R) Wrinkled (r) 7

7 Seed colour Yellow (Y) Green (y) 1

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 Mendel’s Propositions

1 or 2 copies of dominant trait

Yellow colour

● Mendel also hypothesised that, since dominant trait appeared in more

ratio, even a single copy of dominant trait will be seen as the observable
feature.
● Here, in case of yellow and green pea cross, single or two copies of yellow
trait will give yellow peas.

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 Mendel’s Propositions

2 copies of recessive trait

Green colour

● For the recessive trait to be seen, it should be present as two copies.

● Two copies of green traits will give green peas.

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 Heterozygous condition means

a) both the traits are different

b) both the traits are identical

c) only one trait is present

d) none of the above

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 Heterozygous condition means

a) both the traits are different

b) both the traits are identical

c) only one trait is present

d) none of the above

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 Test Cross

● It is a cross performed to determine whether offspring

is homozygous or heterozygous dominant by crossing
with the recessive parent.
● The dominant character-expressing offspring
is crossed with a plant that is homozygous
recessive for the same characteristic.
● So, in a test cross for yellow pea plant, yellow
pea plant is crossed with homozygous
recessive green pea plant.
● The yellow plant maybe YY or Yy (containing
two or one copy of the dominant Y trait).

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 Test Cross - Homozygous

Unknown test X Homozygous

plant recessive parent
Yellow Green

F1 generation:

Yellow Yellow Yellow Yellow

● If all F1 offsprings are found to be yellow seed pea plants expressing the
dominant trait, then the test plant is homozygous dominant YY.
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 Test Cross - Heterozygous

Unknown test X Homozygous

plant recessive parent
Yellow Green

F1 generation:

Yellow Yellow Green Green

● Alternatively, if F1 offspring exhibit a 1:1 ratio of yellow and green seed pea
plants, then the test plant is heterozygous Yy.
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 Test Cross

Heterozygous X Homozygous
dominant recessive

Violet White

Violet Violet White White

Ratio of Violet : White = 1:1

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 Back Cross

Back cross

Cross of an offspring with one of its parent plant

Test cross is a type of back cross

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 Test cross is the cross between

test plant and homozygous recessive

a)
parent

b) test plant and dominant parent

c) test plant and any parent

d) none of the above

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 Test cross is the cross between

test plant and homozygous recessive

a)
parent

b) test plant and dominant parent

c) test plant and any parent

d) none of the above

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 Summary
Monohybrid cross
Parents: X
Yellow Green

F1 generation: X
Yellow Yellow Yellow Yellow

F2 generation:

Yellow Yellow Yellow Green Ratio 3:1

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 Summary

Dominant and recessive trait

Trait

Trait present in both F1 and Trait that disappears in F1

F2 generation but reappears in F2

Dominant trait Recessive trait

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 Summary
Homozygous and heterozygous
Form 1 Form 2 Form 1 Form 2

Colour of Colour of
flower flower
Both the copies of
Both the copies of
alleles code for
alleles code for Homozygous Heterozygous different colours -
same colour - White
White and violet
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 Summary

Reciprocal, test and back cross

Reciprocal A paired cross in which traits of male and female

cross parents are switched

A cross between test plant and homozygous

Test cross
recessive parent

Back cross Cross of an offspring with one of its parent plant

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 Classes Notes
Principles of Inheritance and Variation
Genetic Terminology, Punnett Square
Mendel’s Laws of Inheritance

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 Key Takeaways

Genetic terminology 1

2 Punnett square
Phenotypic and
genotypic ratios
Test cross and
back cross
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 Mendel’s law of inheritance 3

Law of dominance

Law of segregation

Summary
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 Recall! Allele Representation
Colour of pea

Alleles Yellow colour = Y Green colour = y

Copy 1 Copy 2 Copy 1 Copy 2 Copy 1 Copy 2

● Every diploid
organism has
two copies of
alleles present
for each
character.

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 Recall! Dominant and Recessive Trait

Trait

Trait present in both F1 and Trait that disappeared in F1

F2 generation but reappears in F2

Dominant trait Recessive trait

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 Recall! Monohybrid Cross

Pea plant X Pea plant

with green with yellow
seeds seeds

2 1
Flower Flower
Cross
pollination

1) Stamens are removed from the yellow seed pea plant (female parent).

2) Pollens are transferred from green seed pea plant (male parent) to yellow seed
pea plant’s stigma (cross-pollination).
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 Recall! Monohybrid Cross

5
Pea pod with Plants = Filial 1
Carpel matures into seeds generation (F1)
pod and ovules mature
to form seeds 3

Seeds are
sown 4

3) Post fertilisation, carpel forms the pod and ovules form the seeds.
4) These pea seeds are sown and allowed to germinate, thus giving the F1 generation of plants.
5) All the plants of F1 generation, were found by Mendel, to contain yellow colored seeds.

This was found to be in direct contrast with the blending theory, according to which, the color of the seeds in F1
generation should have been yellow.
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 Recall! Mendel’s Propositions

Parent 1 Trai
t cop
y

Parent 2 o py Offspring
it c
Tra

● Each parent contributes one copy of trait to offspring.

● The type of trait copy that the offspring receives,
decides the overall appearance of offspring.
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 Recall! Back Cross

Back cross

Cross of an offspring with one of its parent plant

Test cross
Cross of an offspring with the recessive parent
plant

Test cross is a type of back cross

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 Genetic Terminology

Yellow Phenotype Green

The character of an
organism which is
observable

Genotype
YY or Yy yy
The actual genetic
makeup of the organism

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 Combination of alleles in an organism is

a) its genotype

b) its phenotype

c) factor

d) all of the above

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 Combination of alleles in an organism is

a) its genotype

b) its phenotype

c) factor

d) all of the above

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 Punnett Square

● It is a graphical representation to
calculate the probability of all
possible genotypes of offspring
in a genetic cross.
● Reginald Crundall Punnett, an
English geneticist, came up with
the Punnett square in 1905.

Reginald Crundall Punnett

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 Punnett Square
Creating a Punnett square

Gametes Gametes ● First step: A checker box is drawn.

○ Hence, Punnett square method is
also known as checkerboard
Gametes

Allelic Allelic method.

combinations combinations ● Second step: Possible male and female
gametes are written on top row and left
column.
● Third step: All possible allelic
Gametes

Allelic Allelic
combinations are then populated in the
combinations combinations
squares.

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 Parents: X Mendel’s
YY yy Experiment

Gametes: Y Y y y ● Gametes from parents

(yellow seed and green
seed) fuse to form the F1
F1 generation: generation
X ● All the F1 generation seeds
hence formed have the
Yy Yy same phenotype and
genotype
● Phenotype- Yellow seeded
plant
● Genotype- Yy

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 Punnett Square - Monohybrid Cross F1

y y
Genotype of F1
Y Y y Y y generation

100% of F1 generation has

genotype Yy

Y Y y Y y

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 Punnett Square - Monohybrid Cross F1

y y
Phenotype of F1
Y generation

100% of F1 generation has

phenotype yellow peas

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 Parents: X Mendel’s
YY yy Experiment

Gametes: Y Y y y ● F1 generation then

undergoes selfing
and meiosis results
F1 generation: X in formation of 4
gametes.
Yy Yy ● Further, the F2
generation is
Gametes: formed.
Y y Y y

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 Punnett Square - Monohybrid Cross F2

Y y

Y Y Y Y y

y Y y y y

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 Punnett Square - Monohybrid Cross F2

Y y Genotype of F2 generation

25% of F2 generation has

genotype YY
Y Y Y Y y
50% of F2 generation has
genotype Yy

25% of F2 generation has

y Y y y y genotype yy

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 Punnett Square - Monohybrid Cross F2

Y y
Phenotype of F2
generation

Y 75% of F2 generation has

phenotype yellow peas

25% of F2 generation has

phenotype green peas
y

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 Parents: X Mendel’s
YY yy experiment

Gametes: Y Y y y

F1 generation: X
Yy Yy
Gametes:
Y y Y y ● Finally, the F2 generation
is obtained.
● Phenotype - 3 yellow : 1
green
F2 generation:
YY Yy Yy yy ● Genotype - 1:2:1
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 Genotypic and Phenotypic Ratio

Y y
Genotypic ratio
YY = 1/4
Y YY Yy Yy = 1/2
yy = 1/4
y Yy yy
Observed genotype
Genotypic ratio
All possible genotypes

Genotypic ratio YY : Yy : yy = 1 : 2 : 1
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 Binomial Expression
● If x and y are the two alleles (Y and y)
● If a and b are their frequency of appearance in offspring (½ Y or
½ y), the equation will be as follows:
(ax + by)2

= (½ Y + ½ y)2 (By substitution)

= (½ Y + ½ y) X (½ Y + ½ y) (By expansion)

= ¼ YY + ½ Yy + ¼ yy (After solving)

Therefore, final ratio

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YY : Yy : yy = 1 : 2 : 1
 Phenotypic Ratio

Y y
Phenotypic ratio

Y = 3/4

= 1/4
y

Observed phenotype
Phenotypic ratio
All possible phenotypes

Phenotypic ratio Yellow : Green = 3 : 1

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 Genotypic and Phenotypic Ratio = Universal
Seed Flower Pod Stem

Round Yellow Violet Inflated Green Axial flower Tall

Green White Constricted Yellow Terminal Dwarf

Wrinkled
flower

● Mendel tried out the cross between plants differing in other traits.
● Similar results were obtained with the other traits that he studied: Only one of the parental traits was
expressed in the F1 generation while at the F2 stage both the traits were expressed in the ratio 3:1.
● The contrasting traits did not show any blending at either F1 or F2 stage.
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 Punnett Squares
for Test Cross and
Back Cross

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 Punnett Square - Test Cross
Homozygous Heterozygous

Y Y Y y

y Yy Yy y Yy y y

y Yy Yy y Yy y y

100% offspring are yellow; 50% offspring are yellow;

Test plant is homozygous 50% offspring are green;
dominant Test plant is heterozygous dominant
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 Punnett Square - Back Cross

Y y

100% offspring are yellow

Y Y Y Y y

Y Y Y Y y

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 Mendel’s Laws of
Inheritance

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 Law of Dominance

When the alleles are different or in

heterozygous condition, then one
dominates the other.

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 Law of Dominance

YY or Yy yy
● Allele for yellow colour pea (Y) is dominant over allele for green colour pea (y).
● Hence, all the heterozygous Yy progeny of F1 were yellow coloured.
● Allele for green colour is recessive and hence it was seen only in F2 generation
when both the alleles were of y (yy genotype) in one of the four progenies.

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 Law of Segregation

During gamete formation, pair of alleles

segregate such that each gamete
receives only one allele.

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 Law of Segregation

Parents F1 generation F2 generation

● Mendel proposed this law based on the observation that, there was no
blending/mixing of alleles seen in any progeny.
● Though the parents contain two alleles before gamete formation, the alleles
segregate from each other such that a gamete receives only one of the two
alleles.
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 Law of Segregation

Heterozygous Homozygous
parent Yy YY parent

Gametes Y Y y y Y Y Y Y

● A homozygous parent produces similar gametes.

● While a heterozygous one produces two kinds of gametes, each having
one allele in equal proportion.
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 According to law of dominance, in a pair of dissimilar alleles

a) one allele dominates the other

b) both the alleles dominate each other

c) one allele masks the other

d) both a and c

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 According to law of dominance, in a pair of dissimilar alleles

a) one allele dominates the other

b) both the alleles dominate each other

c) one allele masks the other

d) both a and c

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 Parents: X Summary
YY yy
Mendel’s
Gametes: Y Y y y experiment

F1 generation: X
Yy Yy
Gametes:
Y y Y y ● Finally, the F2 generation
is obtained.
● Phenotype - 3 yellow : 1
green
F2 generation:
YY Yy Yy yy ● Genotype - 1:2:1
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 Summary
Phenotypic and genotypic ratio

Y y Y y

Y Y Y Y Y y

y y Y y y y
Phenotypic ratio Genotypic ratio

Yellow : Green = 3 : 1 YY : Yy : yy = 1 : 2 : 1
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 Summary
Punnett square - Monohybrid cross F2

Y y

Y
YY Yy

y
Yy yy
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 Summary
Genetic terms

• Genotype – Combination of alleles

• Phenotype – Observable trait
• Homozygous – Both the alleles are identical
• Heterozygous – Alleles are different
• Dominant – Allele which is expressed as phenotype during
heterozygous condition
• Recessive – Allele which is not expressed as phenotype
during heterozygous condition
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 Classes Notes
Principles of Inheritance and Variation
Dihybrid Cross, Law of Independent Assortment,
Important Formulae, Incomplete Dominance

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 Key Takeaways

Dihybrid cross 1

Phenotypic ratio
Law of independent
Genotypic ratio 2
assortment

Important formulae 3

4 Incomplete dominance

Summary
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 Recall! Contrasting Traits Used by Mendel
Pod Seed

Inflated Green Round Yellow

(Full)

Constricted Yellow Wrinkled Green

Stem Flower

Axial Tall
flowers (6 - 7 ft) Violet

Terminal Dwarf
(3/4 - 1 ft) White
flowers
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 Recall! Monohybrid Cross

Allele 1 Allele 2 Allele 1 Allele 2

v v V v

vv Vv
Colour of flower- White Colour of flower - Purple
Homozygous Heterozygous
Both the alleles code for The two alleles code for
same colour i.e. white in different colours i.e. white
this case and purple in this case
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 Recall! Law of Dominance

● When the alleles are different or in heterozygous condition, then

one allele dominates the other .

Parents: X
VV vv

Gametes: V v v
V

F1 generation:
Vv
Purple is the dominant allele
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 Recall! Law of Segregation

● During gamete formation, pair of alleles segregate such that each

gamete receives only one allele.

Parents: X
VV vv

Gametes: V v v
V

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 Recall! Punnett Square

V v

VV

● It is a method to depict Mendel’s cross using checker boards.

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 Recall! The Punnett Square Method to Depict
Mendel’s Cross
Vv X Vv

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 Dihybrid Cross

● It is a cross between two individuals with two different

observable characters.
● In the monohybrid cross, plants used differed in one
character.
● Mendel’s next objective was to check whether these
laws were applicable for each pair of differing
characters when several different characters are
united in the hybrid through fertilisation.

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 Dihybrid Cross
Parental
generation

Pea plant with round,

X Pea plant with
yellow seeds wrinkled, green
seeds

F1
Pea plant generation
with round,
yellow seeds

● Mendel chose pure lines/true breeds as parent plants.

● He chose pea plants producing round yellow, and wrinkled
green peas to perform the cross.
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 Dihybrid Cross

Pea plant Pea plant ● He then self-fertilised the

with round, F1
X with round, F1 generation.
yellow seeds yellow seeds generation
● He found that some plants
had
○ yellow and round
seeds
○ yellow and wrinkled
seeds
F2 ○ green and round
generation seeds
○ green and wrinkled
Round, Wrinkled, Round, Wrinkled,
yellow seeds yellow seeds green seeds green seeds
seeds.

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 Dihybrid Cross
YR Yr yR yr

YR
YYRR YYRr YyRR YyRr ● The F2 generation of this
cross can be easily depicted
via Punnett square.
Yr ● Parental gametes are written
YYRr YYrr YyRr Yyrr
outside the box.
● F2 generation is tabulated in
yR boxes showing all
phenotypes and genotypes.
YyRR YyRr yyRR yyRr

yr
YyRr Yyrr yyRr yyrr
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 Dihybrid Cross
F2 generation
Phenotypic ratio
Round, Wrinkled, Round, Wrinkled,
yellow yellow green green
F2 generation 9 : 3 : 3 : 1
Genotypic ratio

YYRR YYRr YYrr YyRR YyRr Yyrr yyRR yyRr yyrr

1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1
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 Dihybrid Cross
Inference
Based on the above observations, it can be concluded:

● Round seed is a dominant trait.

● Wrinkled seed is a recessive trait. Dominant Recessive
● Round and yellow seeds hence form the
dominant phenotype.
● Green and wrinkled seeds form the
recessive phenotype. Round, Green,
yellow wrinkled
● Round green seeds, and round yellow seeds are
also formed in intermediate proportions.
● This indicates that alleles of different characters are
passed onto gametes independently of each other.
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 Dihybrid Cross

Dominant Recessive

The alleles are represented

in form of the letters.

Y R y r

These are the dominant and

recessive variants
YYRR yyrr respectively.
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 Law of Independent Assortment

Based on the observations of dihybrid

cross and the inferences drawn, Mendel
proposed the law of independent
assortment which states that:

“When two pairs of traits are combined

in a hybrid, segregation of one pair of
characters is independent of the other
pair of characters”.

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 Dihybrid Cross

Parents: X
YYRR yyrr

Gametes:
YR YR yr yr

F1 generation: X
YyRr YyRr

Gametes:
YR Yr yR yr YR Yr yR yr

F2 generation:
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 Dihybrid Cross

● Consider the segregation of one pair of genes R and r.

● 50% of the gametes have the gene R and the other 50% have r.
● Each gamete having either R or r allele should also have the allele Y or y.
● The segregation of 50% R and 50% r is independent of the segregation
of 50% Y and 50% y.
● Thus, there are four genotypes of gametes (four types of pollen and four
types of eggs).
● The four types are RY, Ry, rY and ry each with a frequency of 25% or
1/4th of the total gametes produced.

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 A cross was performed between tall plant (dominant,
heterozygous trait) with green seeds and dwarf plant with
yellow seeds (dominant, heterozygous trait), what is the
phenotypic ratio of offspring that are dwarf and yellow?

A 3 : 16

B 5:8

C 1:4

D 7 : 16

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 Parents:
X
Ttyy ttYy

Gametes:
Ty Ty ty ty tY ty tY ty

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 Ty Ty ty ty
Phenotypic Ratio
tY TtYy ttYy ttYy (dwarf and yellow):
TtYy
4 : 16
ty Ttyy Ttyy ttyy ttyy

tY TtYy TtYy ttYy ttYy

ty Ttyy Ttyy ttyy ttyy

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 Ty Ty ty ty
Phenotypic Ratio:
tY TtYy ttYy ttYy
TtYy
1:4
As phenotypic ratio of dwarf
ty Ttyy Ttyy ttyy ttyy and yellow plants is asked, it
is 4 : 16 = 1 : 4.

tY TtYy TtYy ttYy ttYy

ty Ttyy Ttyy ttyy ttyy

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 A cross was performed between tall plant (dominant,
heterozygous trait) with green seeds and dwarf plant with
yellow seeds (dominant, heterozygous trait), what is the
phenotypic ratio of offspring that are dwarf and yellow?

A 3 : 16

B 5:8

C 1:4

D 7 : 16

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 Important Formulae

Types of gametes = 2n For all gametes

Types of phenotypes = 2n
Only in case of self-fertilisation
Types of genotypes = 3n

where, n = number of heterozygous gene pairs

● These formulae are used to calculate the type and number of gametes,
phenotypes and genotypes based on number of heterozygous gene pairs
present.

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 Monohybrid Cross
Types of gametes = 2n

● In parents, no
heterozygous pair is
seen.
● So, the equation will
be 20= 1(only 1 type
of gamete seen)
● One heterozygous
pair is obtained after
F1 generation - Vv
● n=1
● Types of gametes =
2n = 21 = 2
Types of gametes = 2
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 Monohybrid Cross
Types of phenotypes = 2n

● One heterozygous
pair is obtained after
F1 generation - Vv.
● n=1
● 2n = 21 = 2

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Types of phenotypes = 2
 Monohybrid Cross
Types of genotypes = 3n

● One heterozygous
pair is obtained
after F1
generation (Vv).
● n=1
● 3n = 31 = 3
● So, the types of
genotypes are VV,
Vv and vv.

Types of genotypes = 3
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 Dihybrid Cross
Types of gametes = 2n

● Two heterozygous
gene pairs are
obtained after F1
generation, Yy and
Rr.
● 2n = 22 = 4

Types of gametes = 4
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 Dihybrid Cross
Types of phenotypes = 2n

● Two heterozygous
pairs are obtained
after F1 generation,
Yy and Rr.
● 2n = 22 = 4

Types of phenotypes = 4
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 Dihybrid Cross
Parents: X
YYRR yyrr

Gametes:
YR YR yr yr

F1 generation: X n=2
YyRr YyRr

Gametes:
YR Yr yR yr YR Yr yR yr

Round, Wrinkled, Round, Wrinkled,

F2 generation: yellow seeds yellow seeds green seeds green seeds
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 Dihybrid Cross
Types of genotypes = 3n

Parents: X ● Two
YYRR yyrr
heterozygous
Gametes: pairs are
YR YR yr yr
obtained after
F1 generation: YyRr n=2 F1 generation,
Yy and Rr.

YYRR YYRr YYrr YyRR YyRr Yyrr yyRR yyRr yyrr

Types of genotypes = 9
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 Use the probability method to calculate the number of
gametes and genotypes, respectively, in a self-cross of
AaBbCc parents.

A 16; 32

B 4; 9

C 8; 27

D 12; 18

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 Types of gametes = 2n Types of genotypes = 3n

where n = number of heterozygous gene pairs = 3

Aa Bb Cc
a =2
Types of gametes 3
Types of genotypes = 3 3

where n = 3
Types of gametes = 8 Types of genotypes = 27

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 Use the probability method to calculate the number of
gametes and genotypes, respectively, in a self-cross of
AaBbCc parents.

A 16; 32

B 4; 9

C 8; 27

D 12; 18

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 Exceptions to Mendel’s Laws

Incomplete dominance

Co-dominance

Multiple alleles

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 Incomplete Dominance
F2 generation
Let us consider a snapdragon flower. They are:
● red coloured in homozygous dominant condition
● white coloured in homozygous recessive condition R r
Now, if these two parents are crossed, then according to
Mendel’s laws, we should get red flowers in F1 generation.
R
RR Rr
X

Red (RR) White (rr) All red (Rr) r

P generation F1 generation
Rr rr
● Similarly, according to Mendel’s laws, F2 generation Phenotypic ratio :
Red White
should have the phenotypic ratio of 3:1 for red:white (F2) - 3 : 1
flowers, as depicted here.
Genotypic ratio : rr
RR : Rr
However, this is not the case in snapdragon. (F2) - 1: 2 :1
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 Incomplete Dominance
F2 generation
● Instead, in F1 generation, all flowers obtained are
pink in color. R r
● This is an intermediate phenotype which hints at
blending of traits, a theory rejected by Mendel’s
experimental results. R
RR Rr
X

White (rr)
r
Red (RR) All pink (Rr) Rr rr
P generation F1 generation Red Pink White
Phenotypic ratio
● Similarly, in F2 generation, the phenotypic ratio (F2) - 1 : 2 : 1
matches the genotypic ratio, where both the
original parental type and the F1 phenotypes Genotypic ratio RR : Rr : rr
appear. (F2) - 1 : 2 : 1
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 Incomplete Dominance

Incomplete dominance is a form of

intermediate inheritance in which
one allele for a particular trait is not
expressed completely over its
paired allele.

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 Incomplete Dominance
Comparison
Complete Incomplete
dominance dominance

Phenotypic ratio Phenotypic ratio

F2 generation
Red : White Red : Pink : White
3 : 1 1 : 2 : 1

Genotypic ratio Genotypic ratio

RR : Rr : rr RR : Rr : rr
1 : 2 : 1 1 : 2 : 1
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 Incomplete Dominance

● It describes the general situation in which the

phenotype of a heterozygote is intermediate
between the two homozygotes on some
quantitative scale of measurement.
● None of the two alleles of a gene is completely
dominant over each other.
● When both alleles are present together, a new
phenotype is formed.
● New phenotype is intermediate between the
independent expression of the two alleles.

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 Incomplete Dominance

Examples of incomplete dominance

Flower colour in Four O’ clock plant

(Mirabilis jalapa)

Flower colour in Snapdragon or Dog Flower

(Antirrhinum majus)

Andalusian fowls

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 Incomplete Dominance

● German botanist Carl Correns first observed this

phenomenon in the color of the four o’clock flower
(Mirabilis jalapa).
● A homozygous red-flowered four-o’clock plant was
crossed to a homozygous white-flowered plant.
● The wild type allele for red flower color is
designated CR and the white allele is CW.

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 Incomplete Dominance
Examples
Law of dominance is not applicable in incomplete dominance.

Mirabilis jalapa Snapdragon / Antirrhinum majus

(Four o’clock) (Dog flower)
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 Incomplete Dominance

● Antirrhinum is a genus of plants commonly known as

dragon flowers or snapdragons because of the
flowers' fancied resemblance to the face of a dragon
that opens and closes its mouth when laterally
squeezed.

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 Incomplete Dominance

● Andalusian fowls have two pure forms, black

and white.
● If the two forms are crossed, F1 individuals
appear blue coloured due to occurrence of fine
alternate black and white stripes on the feathers.
● F2 generation produces three types of fowls— 1
black: 2 blue: 1 white.

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 Incomplete Dominance

Parents: Pure black Pure white

BB bb

Blue
F1 generation: Bb

Mating among F1 generation

F2 generation:
White
Black Blue Blue
bb
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BB Bb Bb
 Summary
● Dihybrid cross
○ A dihybrid cross is a breeding experiment between two individuals that
differ in two different characters.

● Law of independent assortment

○ It states that “during a dihybrid cross (crossing of two pairs of traits), an
assortment of each pair of traits is independent of the other”. In other
words, during gamete formation, one pair of traits segregates from
another pair of traits independently.

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 Summary

● Incomplete dominance

Incomplete dominance is a form of intermediate

inheritance in which one allele for a particular trait is
not expressed completely over its paired allele. X

● Important formulae Red (RR) White (rr)

○ Types of gametes = 2n
○ Types of phenotypes =2n
○ Types of genotypes =3n
All Pink (Rr)
where, n= number of heterozygous gene pairs

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 Classes Notes
Principles of Inheritance and Variation
Co-dominance, Failure of Mendel’s Law

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 Key Takeaways

Co-dominance 1

2 The concept of dominance

Summary
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 Recall: Mendel’s Laws of Inheritance
Law of Dominance :
In a dissimilar pair of alleles, one member of the pair
Dominant
dominates (dominant) the other (recessive). Recessive allele
allele

Yy YY
Law of Segregation :
During gamete formation, pair of alleles segregate such that each
Y y Y Y
gamete receives only one allele and alleles don’t blend.
Heterozygous Homozygous

Law of independent assortment:

When two pairs of traits are combined in a hybrid, segregation of
one pair of characters is independent of the other pair of character.

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 Recall! Genetic Terms

46 46

23 23

23 x 2 = 46
Homozygous Heterozygous
chromosomes
Same alleles of the Different alleles
Offspring receive 23 chromosomes gene on of gene on
from each parent. The obtained chromosomes chromosomes
gene may be dominant or recessive.
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 Co-dominance
● Co-dominance is the type of dominance where the offspring show similarity to
both the parents and it is due to independent and equal expression of both
alleles.
● Both the alleles which are present together in heterozygous individual but do
not show dominant – recessive relationship nor intermediate condition, but
express their traits independently are known as co-dominant alleles.
● Co-dominant alleles should not be confused with incomplete dominance.
● Co-dominant inheritance is characterized by distinct expression of the gene
products of both alleles.
● For co-dominance to be studied, both products must be phenotypically
detectable.
● Co-dominant alleles are shown by the same capital letter with different
superscripts. E.g.IA, IB, HbA, HbS.
● Another method is to show them by their own capital alphabets.
● E.g., R (for red hair) and W (for white hair) in cattle.
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 Co-dominance

Examples of co-dominance

ABO blood groups

MN blood groups

Sickle cell haemoglobin

Coat colour in cattle

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 Co-dominance
F2 generation

R W
X

Red (RR) White (WW) Roan (RW) R

RR RW
P generation F1 generation

● When red and white cattle are crossed,

W
RW WW
independent characters of both are seen
in the offspring (roan).
● The alleles of both parents independently Red : Roan : White
Phenotypic ratio -
express themselves without blending. 1 : 2 : 1
● This is the concept of co-dominance.
RR : RW : WW
Genotypic ratio -
1 : 2 : 1
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 Co-dominance
Examples

Blood type Blood type

A B

Red White

Blood type
AB

Roan

Shorthorn cattle Human ABO blood groups

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 Co-dominance in Blood Groups
Based on presence or absence of antigens A and B on RBCs, there are four
different blood groups.

A Antigen B Antigen Allele: I represents the gene

responsible for blood groups,
A B whereas the alleles are written
in superscript.

Blood Group A Blood Group B

A Antigen A
B Antigen
AB O
Blood group A
A(IAIA) - Homozygous
Blood Group AB Blood Group O A(IAIi) - Heterozygous
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 Co-dominance

● Three blood groups A, B and O were discovered by Landsteiner

while one blood group AB was discovered by de Castello and Sturli.

● ABO grouping is based on the presence or absence of two surface

antigens on the RBCs namely A and B.

● Similarly, the plasma of different individuals contain two natural

antibodies.

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 Co-dominance

Antigens on RBCs

Antigen A Blood group A

Antigen B Blood group B

Antigen A and B Blood group AB

Neither A nor B Blood group O

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 Co-dominance
F2 generation
IA and IB are co-dominant, and hence they create a new
blood group AB which has both the antigen A and
antigen B. IA IB
P generation
IA
A X B
A(IAIA) BB
B(I I ) IAIA IAIB

IB
IA IB Gametes IAIB IBIB
A : AB : B
Phenotypic ratio(F2) -
1 : 2 :1
AB AB(IAIB) IA
:IA IB:IB IB
F1 generation
Genotypic ratio(F2) - IA1 : 2 :1
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 Co-dominance

● Persons with IAIB alleles have blood group AB because both IA and
IB alleles are co-dominant.
● AB blood group is characterised by the presence of both antigen
A (from IA) and antigen B (from IB) over the surface of RBCs.
● Karl Landsteiner and Philip Levine discovered a glycoprotein
molecule found on the surface of RBCs that acts as an antigen.
● In the human population, two forms of this glycoprotein exist,
designated M and N; an individual may exhibit either one or both
of them.
● The MN system is under the control of a locus found on
chromosome 4, with two alleles designated LM and LN.

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 Co-dominance

Blood group (Phenotype) Genotype Antigen present

M MM M

N NN N

MN MN MN

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 Hypothetical Comparison of Various
Inheritance Patterns
Complete dominance Co-dominance Incomplete dominance

Phenotypic ratio Phenotypic ratio Phenotypic ratio

Red : White Red : Roan : White Red : Pink : White

3 : 1 1 : 2 : 1 1 : 2 : 1
Genotypic ratio Genotypic ratio Genotypic ratio
RR : Rr : rr RR : RW : WW RR : Rr : rr
1 : 2 : 1 1 : 2 : 1 1 : 2 : 1

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 Co-dominance: Sickle Cell Haemoglobin

● It is an autosomal recessive disorder in which

the affected individual produces an altered RBCs
form of haemoglobin.
● Most people carry the HbA allele and make
haemoglobin A.
● Individuals affected with sickle cell anemia are
homozygous for the HbS allele and produce
only haemoglobin S.
● This causes their red blood cells to deform into Normal Sickle
a sickle shape.

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 Co-dominance: Sickle Cell Haemoglobin

● The sickling phenomenon causes the life span RBCs

of these cells to be greatly shortened to only a
few weeks compared with a normal span of
four months, and therefore, anemia occurs.
● Abnormal sickled cells can clog the capillaries
at places in the body, leading to localised
areas of oxygen depletion.
Normal Sickle

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 Co-dominance: Sickle Cell Haemoglobin

● Such an event, called a crisis, causes pain and sometimes

tissue and organ damage.
● Kidneys, muscles, joints, brain, gastrointestinal tract, and
lungs can be affected.
● For these reasons, the homozygous HbSHbS individual
usually has a short life span relative to an individual
producing haemoglobin A.

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 Co-dominance: Sickle Cell Anemia
Inheritance
(Carrier x Carrier)

HbAHbS HbAHbS HbA HbS

HbA HbS HbA HbS HbA HbAHbA HbAHbS

HbS HbAHbS HbSHbS

HbAHbA HbAHbS HbAHbS HbSHbS

Normal Carrier Carrier SCA(Dies)

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 Co-dominance: Sickle Cell Haemoglobin
HbAHbS X HbAHbS

HbA HbS

HbAHbA HbAHbS
HbA (Unaffected, not (Unaffected,
malaria resistant) malaria-resistant)

HbAHbS
HbSHbS
S (Unaffected,
Hb malaria-resistant)
(Sickle cell
disease)

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 Co-dominance: Sickle Cell Haemoglobin
● Sickle cell allele has been found at a fairly high frequency among human populations
that are exposed to malaria.
● The protozoan genus that causes malaria, Plasmodium, spends part of its life cycle within
the Anopheles mosquito and another part within the red blood cells of humans who
have been bitten by an infected mosquito.
● Red blood cells of heterozygotes, HbAHbS, are likely to rupture when infected by this
parasite, thereby preventing the parasite from propagating.
● People who are heterozygous have better resistance to malaria than do HbAHbA
homozygotes.
● In regard to haemoglobin itself, there is co-dominance.
● The alleles HbA and HbS encode two different forms of haemoglobin that differ by a
single amino acid, and both forms are synthesised in the heterozygote.

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 The Concept of Dominance
Mendel’s laws failed to explain the concepts of incomplete dominance and co-dominance.

Substrate Product

Enzyme + Enzyme - substrate Enzyme - product Enzyme +

substrate complex complex product

For example, a gene contains the information for producing an enzyme. Now
there are two copies of a gene i.e., two allelic forms. The normal allele produces
the normal enzyme which is needed for the transformation of a substrate S.
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 The Concept of Dominance
Enzyme + Product
● This allele can change due to some Normal/less
modifications. efficient
enzyme
Substrate

Enzyme
Non-functional
enzyme

Enzyme + Enzyme - Substrate

Substrate Complex
Substrate

● Can result in mutated allele or modified No enzyme

enzyme or faulty/no product formation.

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 The Concept of Dominance
● When the modified allele produces a non-functional enzyme or no enzyme, the
phenotype may be affected.
● The phenotype/trait will only be dependent on the functioning of the normal
allele.
● The unmodified, fully functional allele, which represents the original phenotype is
the dominant allele and the modified allele is generally the recessive allele.

Dominant allele Recessive allele

❖ Normal ❖ Modified
❖ Unmodified ❖ Non-functional
❖ Fully functional
❖ Original phenotype
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 The Concept of Dominance

● Now, in cases of co-dominance or incomplete dominance, the new

alleles do not produce useless or non-functional enzyme.
● Instead, they produce an enzyme which actually has the ability to give
rise to a new or different trait.
● Hence, when the two different alleles are present together in an
individual, one of the two things happen:
○ the physiological process initiated by the different alleles result in a
new trait, which can be seen as a blend of the homozygous traits
(incomplete dominance).
○ the two alleles are expressed independent of each other and hence
both the alleles are expressed together in the phenotype
(co-dominance).

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 Sally bought two potted plants of the same flower but different colour.
One was red and another was white. She planted the pots in her garden.
After some time, she crossed the red flower plant with the white one.
To her surprise, the cross produced flowers of completely different
colour; i.e. pink. What do you think is the relation between the red and
white colour of the flowers?

A Complete dominance

B Incomplete dominance

C Co-dominance

D Multiple alleles
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 Sally bought two potted plants of the same flower but different colour.
One was red and another was white. She planted the pots in her garden.
After some time, she crossed the red flower plant with the white one.
To her surprise, the cross produced flowers of completely different
colour; i.e. pink. What do you think is the relation between the red and
white colour of the flowers?

A Complete dominance

X
B Incomplete dominance

Red White Pink

C Co-dominance
P generation F1 generation

D Multiple alleles
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 Summary
X
Incomplete dominance
Red (RR) White (rr)
Incomplete dominance is a form of intermediate
inheritance in which one allele for a particular trait is not
expressed completely over its paired allele.
All Pink (Rr)

Co-dominance X

Red (RR) White (WW)

Co-dominance is the type of dominance where the
offspring show similarity to both the parents and it is
due to independent and equal expression of both the
alleles.
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 Classes Notes
Principles of Inheritance and Variation
Blood Group Inheritance, Coat Colour in Rabbits

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 Key Takeaways

Incomplete
The concept ofdominance
dominance 1

2 Multiple alleles

Multiple alleles for blood

3
groups in humans
Multiple alleles for coat colour
4
in rabbit

Summary
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 The Concept of Dominance
Mendel’s law failed to explain the concepts of incomplete dominance and co-dominance.

Substrate Product

Enzyme + Enzyme - substrate Enzyme - product Enzyme +

substrate complex complex product

For example, a gene contains the information for producing an enzyme. Now
there are two copies of a gene i.e., two allelic forms. The normal allele produces
the normal enzyme which is needed for the transformation of a substrate S.
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 The Concept of Dominance
Enzyme + Product
This allele can change due to some modifications Normal/less
efficient
enzyme
Substrate

Enzyme + Product
Non-functional
enzyme

Enzyme + Enzyme - Substrate

Substrate Complex
Substrate

No enzyme

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 The Concept of Dominance
● When the modified allele produces a non-functional enzyme or no enzyme, the
phenotype may be affected.
● The phenotype/trait will only be dependent on the functioning of the normal
allele.
● The unmodified, fully functional allele, which represents the original phenotype is
the dominant allele and the modified allele is generally the recessive allele.
● So, the recessive trait is seen because both the alleles present produce
non-functional enzyme or no enzyme at all.

Dominant allele Recessive allele

❖ Normal ❖ Modified
❖ Unmodified ❖ Non-functional
❖ Fully functional
❖ Original phenotype
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 The Concept of Dominance

● Now, in cases of co-dominance or incomplete dominance, the new

alleles do not produce useless or non-functional enzyme.
● Instead, they produce an enzyme which actually has the ability to give
rise to a new or different trait.
● Hence, when the two different alleles are present together in an
individual, one of the two things happen:
○ the physiological process initiated by the different alleles result in a
new trait, which can be seen as a blend of the homozygous traits
(incomplete dominance).
○ the two alleles are expressed independent of each other and hence
both the alleles are expressed together in the phenotype
(co-dominance).

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 Multiple Alleles

Allele

More than two Single Other alleles are found in

Individual has only
alleles of the chromosome other members of the
two of the alleles
same genes in a has only one population
population allele

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 Multiple Alleles

Examples of organisms with multiple alleles

Alleles for eye colour in 3 alleles for ABO blood 4 alleles for coat colour in
Drosophila groups in humans rabbit.

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 Multiple Alleles for Blood Group in Humans
Gene I

IA IB i

A B O

Blood group A Blood group B Blood group O

Human ABO blood groups

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 Multiple Alleles for Blood Group in Humans

P generation P generation P generation

A X O A X B B X O
A(IAIA) O(ii) B(IBIB)
A(IAIA) B(IBIB) O(ii)

A
AB B

A(IAi) AB(IAIB) B(IBi)

F1 generation F1 generation F1 generation

● When IA and i are present, only IA is expressed because i does not produce any antigen.
● When IB and i are present, only IB is expressed because i does not produce any antigen.
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 Multiple Alleles for Blood Group in Humans
Genotype Blood
Allele from Allele from Type of
of type of
parent 1 parent 2 dominance
offspring offspring
Human blood groups
A A A A (ABO)
I I I I A -

IA IB I AI B AB Co-dominance
Phenotype Genotype
IA i I Ai A Dominance

O ii
IB IA I AI B AB Co-dominance

B B B B A IAIA, IAi
I I I I B -

B B B IBIB, IBi
I i I i B Dominance

AB IAIB
i i ii O -
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 Multiple Alleles for Blood Group in Humans
O A B AB
i i IA i IB IA IB
O
i ii ii IAi ii IBi IAi IBi
O O A O B A B
ii ii IAi ii IBi IAi IBi
i
O O A O B A B This box marks the unique
A
A
A
I i A
I i I IA A I i I I AB
I IAA
I I AB
genotypes found in human
IA
A A A A AB A AB blood groups.
ii ii IAi ii IBi IAi IBi
i
O O A O B A B
B
IBi IBi IAIB IBi IBIB IAIB IBIB
IB
B B AB B B AB B
A IAi IAi IAIA IAi IAIB IAIA IAIB
I
A A A A AB A AB
AB
IBi IBi IAIB IBi IBIB IAIB IBIB
IB
B B AB B B AB B
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 Multiple Alleles for Coat Colour in Rabbit
● Rabbits have four different alleles that determine their coat colours.

Gene C

Agouti Chinchilla Himalayan Albino

Coat colour in rabbits

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 Multiple Alleles for Coat Colour in Rabbit

● Differences in the various alleles are related to the function of

tyrosinase.
● The C allele encodes a fully functional tyrosinase that
eventually results in a full brown coat color.
● The chinchilla allele (Cch) is a partial defect in tyrosinase that
leads to a slight reduction in black pigment and a greatly
diminished amount of orange/yellow pigment, which makes the
animal look gray.
● The albino allele, designated c, is a complete loss of tyrosinase,
resulting in white color.

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 Multiple Alleles for Coat Colour in Rabbit

● The himalayan pattern of coat color, determined by the Ch

allele, is an example of a temperature-sensitive allele.
● The mutation in this gene has caused a change in the
structure of tyrosinase, so it works enzymatically only at low
temperature.
● Because of this property, the enzyme functions only in cooler
regions of the body, primarily the tail, the paws, and the tips
of the nose and ears.

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 Did You Know?

Multiple alleles

● 15 alleles code for the eye colour in

Drosophila.

● They show various types of

co-dominance and incomplete
dominance.

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 Summary
Presence of more than two
Multiple alleles alleles of the same genes Gene I
in a population.

Human Blood Groups (ABO) IA IB i

Phenotype Genotype

A B O
O ii

A IAIA, IAi Blood group A Blood group B Blood group O

B IBIB, IBi
Human ABO blood groups
AB
AB I I
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 Summary
● Rabbits have four different alleles that determine their coat colours.

Gene C

Agouti Chinchilla Himalayan Albino

Coat colour in rabbits

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 Classes Notes
Principles of Inheritance and Variation
Chromosomal Theory of Inheritance, Sutton and Boveri
Experiments, Polygenic Inheritance

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 Key Takeaways

Chromosomal theory of
1
Inheritance

2 Sutton and Boveri Experiments

Similarities between 3
chromosomes and factors

4 Polygenic Inheritance

Summary
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 Recall! Exceptions to Mendel’s Laws of
Inheritance
01 03
Incomplete Multiple
dominance alleles
Both of the alleles
in a heterozygote
None of the are expressed More than two
factors/alleles are independently alleles of same
dominant gene

02
Co-dominance

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 A brown female (BB) dog gave birth to a litter of 8 puppies.
Half of the puppies are completely brown and half of them have
white and brown spots (Bb) on them. If the colour coat of dog
shows codominance, what is the genotype of the father dog?
Completely brown- BB; spotted- Bb; white-bb.

A Bb

B bb

C BB

D Can’t be decided

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 Discussion

BB Brown (BB)

Spotted (Bb)
Possible phenotypes Bb

bb
White (bb)

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 Discussion
Possibility 1: Brown
female and brown
male
P generation: X
Brown (BB) Brown (BB)

Gametes: B B

F1 generation:
Brown (BB)

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 Discussion

Possibility 1: Brown
female and spotted
male
P generation: X
Brown (BB) Spotted (Bb)

Gametes: B B b

F1 generation: 50% brown

offspring and 50%
spotted offspring
Brown (BB) Spotted (Bb)

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 Discussion

Possibility 3: Brown
female and white
male
P generation: X
Brown (BB) White (bb)

Gametes: B b

F1 generation:
Spotted (Bb)

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 A brown female (BB) dog gave birth to a litter of 8 puppies.
Half of the puppies are completely brown and half of them have
white and brown spots (Bb) on them. If the colour coat of dog
shows codominance, what is the genotype of the father dog?
Completely brown- BB; spotted- Bb; white-bb.

A Bb

B bb

C BB

D Can’t be decided

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 What is the chance that a type O and Type AB couple
could produce offspring with type A?

A 50 %

B 75 %

C 25 %

D 100 %

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 Discussion

O AB
P generation: X
O(ii) AB(IAIB)

Gametes: i IA IB

F1 generation: A B

A(IAi) B(IBi)

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 Discussion

A
Percentage/ Desired blood group
= x 100
Chances Total number of
A(IAi)
possible blood groups

Percentage/ 1
= x 100 = 50%
Chances 2
B

B(IBi)
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 What is the chance that a type O and Type AB couple
could produce offspring with type A?

A 50 %

B 75 %

C 25 %

D 100 %

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 Recall! Mendel’s Conclusions

Factors come in pairs

Factors segregate during Mendel’s

gamete formation conclusions

Factors segregate
independently of each other

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 Recall! Reasons of Negation of Mendel’s Work
No communication

Not widely publicised

Concept of factors
Concept of “factors” not accepted
by contemporaries

Maths to explain biology

Usage of mathematics unacceptable
to many biologists

Physical proof
No physical proof for existence of
factors
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 Recall! Resurgence of Genetics

Hugo de Vries Carl Correns Erich Von Tschermak

These three scientists independently rediscovered the same concepts as that of Mendel.

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 Chromosomal Theory of Inheritance
● Scientists Walter Sutton and Theodore Boveri independently performed some
experiments.
● They were able to carefully observe cell division and discovered that chromosomes
separate during cell division and are present in pairs, specifically in meiosis.
● Their conclusions reinforce Mendel's work which are now known as chromosomal
theory of inheritance.

Walter Sutton Theodore Boveri

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 Sutton and Boveri Experiment – 1

Walter Sutton conducted the experiment on

lubber grasshopper.
● He observed the cells of the grasshopper
under microscope and observed that it had 22
chromosomes in each cell.
● Initially, all 22 chromosomes appeared quite
different from each other.
● But when he started arranging them based on
their structure and size, he found a pattern.
● He saw that every chromosome had an
Lubber grasshopper
identical pair which are now known as
homologous pairs.

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 Sutton and Boveri Experiments - 1
Conclusion:

Every chromosome had an almost identical partner.

So, chromosomes occur in pairs.

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 Sutton and Boveri Experiment - 2

● Boveri worked on Ascaris and

found that the organism has 4
chromosomes.
● He observed that, there are 2
types of cells present in Ascaris.
Ascaris ○ In the present era, they are
called somatic cells and the
germ cells.
● The way each of these cells divide
Somatic cells Germ cells is different.

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 Sutton and Boveri Experiments - 2
Genetic material Condenses to Chromosomes
doubles form align at centre
chromosomes

Somatic S Phase Prophase Metaphase

cell Chromosomes
separate and travel to
the opposite poles
Each daughter cell has 4
chromosomes equal to
Cells start to divide
the number of
chromosomes present in
the mother cell

Cytokinesis Telophase Anaphase

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 Sutton and Boveri Experiment - 2

Germ cell S phase Prophase I Metaphase I Anaphase I Telophase I

Genetic material 4 Homologous The identical Karyokinesis

doubles chromosomes pairs of pairs separate is completed
are formed chromosomes and move to which will be
and align at the opposite followed by
crossing-over equatorial plate poles cytokinesis
occurs
between
homologous
chromosomes
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 Sutton and Boveri Experiment - 2
Germ cells

Prophase II Metaphase II Anaphase II Telophase II and

cytokinesis
The chromosomes get Sister chromatids
arranged at the centre separate and travel By the end of the
to opposite poles division 4 cells were
formed and 2
chromosomes were
present in each cell

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 Sutton and Boveri Experiment - 2

Conclusion:

• Meiosis reduces number of chromosomes in germ cells

by half.
• Chromosomes segregate during gamete formation.

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 Sutton and Boveri Experiment – 3

Sutton conducted another experiment on

the same lubber grasshopper.

● He had observed that grasshopper

had a total of 22 chromosomes in a
cell.
Walter Sutton ● Let us consider only 4
chromosomes.
● With these 2 sets of homologous
chromosomes, there are two
possibilities for meiosis.

Lubber grasshopper
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 Sutton and Boveri Experiment - 3
Possibility I

S phase Prophase I Metaphase I Anaphase I

Telophase II and
Telophase I Prophase II Metaphase II Anaphase II cytokinesis
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 Sutton and Boveri Experiment - 3
Possibility II

S phase Prophase I Metaphase I Anaphase I Telophase I

Telophase II and
Prophase II Metaphase II Anaphase II cytokinesis
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 Sutton and Boveri Experiment - 3

Possibility I Possibility II

● On comparing both possibilities, we find:

In case I, yellow and red are together.
In case II, yellow and green are together.
● Each chromosome was, therefore, independent of others.
● When they were separated into gametes, the set of chromosomes in each daughter
cell ended up having a mixture of the parental traits, but not necessarily the same
mixture as that of other daughter cells.
● Hence, it can be concluded that during gamete formation, chromosomes in a
homologous pair separate independently of other homologous pairs of
chromosomes.
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 Sutton and Boveri Experiment - 3
Conclusion:

• During meiosis for gamete formation,

o The homologous pairs of chromosomes align
themselves on metaphase plate randomly and
separation occurs in anaphase I.

• Chromosomes in a homologous pair separate independently

of other homologous pairs of chromosomes.

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 Sutton and Boveri Experiment – 3

Chromosomes Chromosomes Number of possible

somatic cell germ cells combinations in germ cell
(2n) (n) (2n)

4 2 22 = 4

6 3 8

10 5 32

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 Similarities b/w Factors and Chromosomes
Chromosomes come in pairs

Factors come in pairs

Chromosomal
Chromosomes segregate
theory of during gamete formation
inheritance
Factors segregate during Mendel’s
gamete formation conclusions

Chromosomes segregate
independently of each other

Factors segregate
independently of each other

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 Sutton and Boveri Theory of Inheritance

Walter Sutton Theodore Boveri

● Sutton and Boveri also came up with a hypothesis, based on their
experiments:
○ Mendel’s factors are present on specific locations of the chromosomes
○ Inheritance of chromosomes = Inheritance of factors
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 Discovery of Gene

• Coined the term ‘gene’

• Described gene as the fundamental,
physical and functional unit of
heredity

Wilhelm Johannsen

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 Chromosomal Theory of Inheritance

Genes are found on specific locations of the

chromosomes and the behavior of these
chromosomes during meiosis can explain the
Mendel’s laws of inheritance

Factors = Genes

Walter Sutton Theodor Boveri

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 Polygenic Inheritance

● Characters like height and skin color in humans which do not have
distinct traits and are spread like gradient are known as polygenic traits.

○ These are controlled by three or more genes.

○ The dominant alleles have a cumulative effect.
○ Each dominant allele expresses a part of the trait and the full trait is
expressed only when all the dominant alleles are present.
○ The genes involved in such quantitative inheritance are called
polygenes.
○ The inheritance of such type of traits is called polygenic inheritance.

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 Polygenic Inheritance

● The traits controlled by quantitative inheritance are sometimes known as

metric traits because they can be measured in terms of unit of size,
height, weight or number.
● They are also known as multiple factor inheritance.
● It is characterized by the occurrence of intermediate forms (continuous
variations) between the parental types.
● A cross between two pure breeding parents does not produce dominant
trait of one parent but instead an intermediate trait is exhibited.

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 Polygenic Inheritance

Examples

Kernel colour in wheat

Cob length in maize

Skin colour in human beings

Height in human beings

Milk and meat yield in animals

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 Polygenic Inheritance – Human Skin Colour

AA aa

BB bb
X
CC cc

AABBCC aabbcc
● Melanin pigments determine skin color. ● White/very light is the phenotype
● Assume that amount of melanin is of recessive alleles.
determined by three genes” A”, “B”, “C”.
● Dark skin tone is dominant gene. The
dominant gene is responsible for fixed
amount of melanin produced.

When a Dominant (black) parent is crossed with the recessive parent, the progeny can show any intermediate
phenotype.
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 Polygenic Inheritance – Human Skin Colour

● The amount of melanin

produced is proportional to
X number of dominant genes.

● This is the reason

AABBCC aabbcc intermediate phenotypes
are seen.

● For example: If the progeny

has “aaBbCC”, the skin
tone will be intermediate.

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 Did You Know?

Emojis for all

● Racism has no basis in science.
● Apps have included several different skin
tones in their emojis.

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 Summary

Sutton and Boveri Experiments

Chromosomes come in pairs

Based on the
three Chromosomal
Chromosomes segregate
experiments theory of during gamete formation
and their inheritance
observations

Chromosomes segregate
independently of each other

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 Summary

Chromosomes come in pairs

Factors come in pairs

Chromosomal
Chromosomes segregate
theory of during gamete formation
inheritance
Factors segregate during Mendel’s
gamete formation conclusions

Chromosomes segregate
independently of each other

Factors segregate
independently of each other
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 Summary

Chromosomal theory of inheritance

Genes are found on specific locations of the chromosomes

and the behavior of these chromosomes during meiosis
can explain the Mendel’s laws of inheritance.

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 Summary

● Polygenic inheritance
○ Polygenic traits - Traits that do not occur distinctly, and are
spread gradiently and controlled by two or more genes. This
type of inheritance is called polygenic inheritance.
○ Eg: Skin color in humans

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 Classes Notes
Principles of Inheritance and Variation
Sex Determination Based on Genotype and Environment

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 Key Takeaways

Sex determination

Genotypic sex
determination
Environmental sex
determination

Summary
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 Recall! Human Chromosomes

1 2 3 4 5 6 7

Autosomes
22 pairs of autosomes which
8 9 10 11 12 13 14 are associated with somatic
cells.

15 16 17 18 19 20 21

or Sex chromosomes
1 pair of sex chromosomes
22 XX 23 XY associated with germ cells.
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 Recall! Fertilisation
❖ During fertilisation, gametes fuse to form the zygote which develops into a
foetus.

2n 2n

Female Male
Meiosis Meiosis

n n

Fertilisation

2n

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Zygote
 Sex Determination

● Sex determination is a biological mechanism which determines the

development of sexual characteristics in an organism.
● It was first studied by Henking (1891) on insects.
● He discovered X chromosome and named it ‘X-body’.
● This lead to development of chromosomal basis of sex
determination.

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 Sex Determination

Genotypic Environmental

Determination Determination
based on the based on the
genetic makeup of environmental
the offspring factors

Based on sex Haplodiploid

chromosomes system

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 Sex Determination

Based on sex chromosomes

Male heterogamety Female heterogamety

XX-XY type XX-XO type ZZ-ZW type ZZ-ZO type

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 XX-XY Type (Lygaeus Type)
❖ Males have 2 heteromorphic sex chromosomes i.e. X and Y.
❖ Females have 2 homomorphic or isomorphic sex chromosomes
i.e. X and X.
❖ Example: Most of the mammals.

Male gametes

(22 + Y) (22 + X)

❖ Fertilisation of egg with sperm having X chromosome produces female

child (44 + XX).
❖ Fertilisation of egg with sperm having Y chromosome produces male
child (44 + XY).
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 Genotypic Sex Determination
Sex determination-Humans

X X ❖ Female always contributes X as the

sex chromosome to the zygote.
❖ Sex chromosome contributed by
X XX XX 50% female
the male (X or Y), determines the
sex of the offspring.

❖ It is the male sperm that

determines whether offspring will
50% male
Y XY XY be a girl or a boy, chances being
50% for each.

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 Sex Determination-Humans
Female gamete Male gamete

n 22 ×
22 ×
+ n +

X X

❖ The male gamete has

44 × 2n
contributed X chromosome.
+ ❖ It fuses with the X chromosome
gamete from the female to form
XX
XX pair in the zygote.
Zygote ❖ Hence, this zygote is a girl.
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 Sex Determination-Humans
Female gamete Male gamete
n 22 ×
22 ×
+ n +

X Y

❖ Gametes having X from the female

44 × and Y from the male fuse to give
+ 2n
XY pair of chromosomes in the
zygote.
XY ❖ Thus, the zygote is 44+XY i.e a
Zygote boy.
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 Sex Determination-Humans

Male Female

OR

❖ So, it is the father’s sperm (that fertilises the egg) which decides
whether the baby will be a girl or a boy.
❖ It is totally a random method, as man has no control over the sex
chromosome in his sperm either.
❖ Nobody should be blamed for giving birth to a child of certain
sex.
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 Sex Determination-Humans
44 + XY

Testis

Sertoli cells Leydig cells

Mullerian inhibiting
substance (MIS) Testosterone

Mullerian ducts regress Wolffian ducts develop

Female reproductive system does not develop Male reproductive system develops
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 Sex Determination-Humans
44 + XX

Ovaries

No sertoli cells No leydig cells

No MIS No testosterone

Mullerian ducts develop Wolffian ducts regress

Female reproductive system develops Male reproductive system does not develop
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 Did You Know?
PAR
Y chromosome
SRY
Euchromatin

❖ The human Y chromosome, was long thought to be

Centromere
mostly blank genetically.
❖ However, data has indicated that Y chromosome has
MSY Euchromatin several genes.
❖ Y chromosome is the smallest of all the
chromosomes.

Heterochromatin

Key: PAR: Pseudoautosomal region

PAR SRY: Sex-determining region Y

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MSY: Male-specific region of Y
 Y Chromosome: Differential Region

❖ Differential region of Y chromosome carries only

Y- linked genes or holandric genes.
❖ It has SRY (Sex determining region) which codes
Y- Chromosome
for TDF (Testis determining factor).
❖ TDF is required for the development of male sex.
❖ In absence of TDF, female sex develops.
❖ On both ends of the Y chromosome, Homologous Differential
region region
pseudoautosomal regions (PARs) are present.
❖ These share homology with regions on the X
chromosome and synapse and recombine with it
during meiosis.

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 Y Chromosome: Differential Region

❖ The remainder of the chromosome, does not synapse or

recombine with the X chromosome.
❖ As a result, it was originally referred to as the
non-recombining region of the Y (NRY).
❖ More recently, researchers have designated this region as
the male-specific region of the Y (MSY).

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 Y Chromosome: Differential Region

❖ The MSY is divided between euchromatic regions, containing functional

genes, and heterochromatic regions, lacking genes.

MSY

Euchromatic regions Heterochromatic regions

❖ Within euchromatin, adjacent to the PAR of the short arm of the Y

chromosome, is the critical gene that controls male sexual
development, the sex determining region Y (SRY).

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 Sex Determination- XX-XO Type

❖ In roundworms and some insects (grasshoppers, cockroaches), the females

have two sex chromosomes, XX, while the males have only one sex
chromosome, X (designated as X0).
❖ Female gametes are homogametic (A+X).
❖ Males are heterogametic with half the male gametes carrying
X-chromosome (A+X) while the other half being devoid of it (A+ 0).
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 Sex Determination- XX-XO Type
Male Female Parents

AA + XO AA + XX
Gametes

A+X A+O A+X A+X

Offsprings

AA + XX AA + XX AA + XO AA + XO

Female Female Male Male

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 Sex Determination- ZZ-ZW Type

❖ In birds and some reptiles both the sexes possess two sex chromosomes.
❖ The females contain heteromorphic sex chromosomes (AA + ZW) while the
males have homomorphic sex chromosomes (AA+ ZZ).
❖ The females are heterogametic and produce two types of eggs, (A + Z)
and (A + W).
❖ The male gametes or sperms are of one type (A + Z).

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 Sex Determination - Birds

Sex chromosomes → Z | W

Z W

Z ZZ ZW Female → ZW Male → ZZ

❖ Birds have a similar system as human but the

difference is the female sex chromosomes
determines the sex of the offspring.
Z ZZ ZW ❖ The chances of offspring being a male or female
is 50% each.

50% Males 50% Females

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 Sex Determination- ZZ-ZO Type

❖ This type of sex determination occurs in some butterflies and moths.

❖ Here the females have odd sex chromosome (AA + Z) while the males
have two homomorphic sex chromosomes (AA + ZZ).
❖ Females produce two types of eggs, one with male producing sex
chromosome (A + Z) and female forming without the sex chromosome
(A + 0).
❖ The males are homogametic, forming similar types of sperms (A + Z).

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 Sex Determination - Fruit Fly
No. of X chromosomes : Pair of autosomes

Case 1: Case 2:

XX : AA XY : AA

2:2 1:2

=1 = 0.5
Female Male

❖ Drosophila has 3 pairs of chromosomes.

❖ 2 pairs are autosomes and 1 pair is that of sex chromosomes.
❖ The sex chromosome may be XX or XY.
❖ Depending upon the number of X chromosomes present, the
ratio varies which determines the sex of the Drosophila.

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 Sex Determination - Fruit Fly

Drosophila melanogaster
• Sex chromosomes → X | Y
• Y has no role in sex determination
• Ratio - no. of X chromosomes : pair of autosomes

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 Sex Determination in Grasshopper

X X Female → XX Male → XO

❖ In grasshopper, the males have only one X

X XX XX 50% Females chromosome, besides the autosomes
whereas female has two X chromosomes.
❖ Eggs fertilized by sperm having X
chromosome become females and those
O XO XO 50% Males
fertilized by sperm, that do not have X
chromosome become males.

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 Did You Know?
Fact - It is always a girl!

❖ The desert grassland

whiptail lizard (Aspidoscelis
uniparens), is an all-female
species of reptiles in North
America.
❖ It’s reproduction process
does not need male
fertilisation.
❖ The lizards reproduce by
parthenogenesis.
Desert grassland whiptail lizard

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 Sex Determination-Haplodiploid System

Worker Drone Queen

❖ Honeybees and ants have a hierarchy in their society.

❖ There is a queen and there are several drones and workers.
❖ Drones are males whose role is to fertilize a receptive queen.
❖ Workers are females who are infertile.
❖ The jobs of worker bees include housekeeping, feeding the all bees
and larvae, collecting the pollen and nectar and making the wax.
❖ Basically, everything in the hive is done by worker bees.
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 Sex Determination-Haplodiploid System
Based on the number of sets of chromosomes

Drone Queen Queen

n n
n n

❖ Sex determination in honey bees is based on the number of sets of

chromosomes an individual receives.
❖ When a queen mates with the drone, she stores the sperms of the drone.
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 Sex Determination - Haplodiploid System
Case 1 Case 2

Queen Worker Queen Drone

n n n
There are 2 possible cases

Case 1: When queen needs more workers in the Case 2: When queen needs more drones in the
society . society.
❖ Queen utilises the sperms and an offspring ❖ She does not utilise the sperm and an
is formed from the union of a sperm and an offspring is formed from the unfertilised egg
egg. (Queen bee produces the egg).
❖ Zygote develops as female. (Sperms from ❖ This is called parthenogenesis.
drone and egg from queen bee.) ❖ Offspring obtained is the male drone.
❖ Thus, the females obtained are diploid. ❖ This means that the males have half the
number of chromosomes than that of a
female (drones are haploid).
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 Sex Determination-Haplodiploid System
• Based on the number of sets of chromosomes
• Female (Queen/worker) → Diploid (fusion of gametes)
• Male (Drone) → Haploid (unfertilised egg)
• Males produce sperms by mitosis

Worker Drone Queen

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 Sex Determination

Environmental

Based on Based on
temperature location

Crocodile Alligator Turtle

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 Temperature Dependent–Crocodile & Alligator
Temperature dependent – crocodile

Critical Critical
Critical
temperature temperature
temperature
Female crocodile Male crocodile

● Sex determination for both crocodiles and alligators is same. If the eggs are subjected to higher
temperatures, it is a female and if the eggs are subjected to lower temperatures, it is a male.

Temperature dependent – turtle

29℃ Critical 29℃ Critical 29℃ Critical

temperature temperature temperature

Female turtle Male turtle

● For turtles - If the eggs are subjected to temperatures higher than 290C it is a female, and if the
eggs are subjected to temperatures lower than 290C, it is a male.
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 Sex Determination
Environmental

Based on Based on
temperature location

Green spoon worm

Based on location of larvae landing
❖ Larvae lands on ocean floor → Female
❖ Larvae attached to female’s body → Male

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 Summary

Sex determination

Genotypic Environmental

Based on
Based on sex Based on Based on
haplodiploid
chromosomes temperature location
system

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 Summary
Genotypic: based on sex chromosomes

Based on sex chromosomes

Male heterogamety Female heterogamety

XX-XY type XX-XO type ZZ-ZW type ZZ-ZO type

Humans roundworms and In birds and some Birds

some insects reptiles
(grasshoppers,
cockroaches)

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 Summary
Genotypic: based on haplodiploid system

Worker Drone Queen

Case 1: When queen needs more workers in the Case 2: When queen needs more drones in the
society . society.
❖ Queen utilises the sperms and an offspring ❖ She does not utilise the sperm and an
is formed from the union of a sperm and an offspring is formed from the unfertilised egg
egg. (Queen bee produces the egg).
❖ Zygote develops as female. (Sperms from ❖ Offspring obtained is the male drone.
drone and egg from queen bee.) ❖ This means that the males have half the
❖ Thus, the females obtained are diploid. number of chromosomes than that of a female
(drones are haploid).
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 Summary
Environmental : based on temperature

● Sex determination for both crocodiles and alligators is same. If the eggs are subjected to higher
temperatures, it is a female and if the eggs are subjected to lower temperatures, it is a male.

Critical
temperature Critical
temperature
Female crocodile
Male crocodile

● For turtles - If the eggs are subjected to temperatures higher than 290C it is a female, and if the
eggs are subjected to temperatures lower than 290C, it is a male.

29℃ Critical
temperature 29℃ Critical
temperature
Female turtle Male turtle
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 Summary
Environmental : based on location

Green spoon worm

Based on location of larvae landing

❖ Larvae lands on ocean floor → Female
❖ Larvae attached to female’s body → Male

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 Classes Notes
Principles of Inheritance and Variation
Pleiotropism, Morgan’s Experiments

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 Key Takeaways

Pleiotropism 1

Sickle cell anaemia

Phenylketonuria
Kartagener’s Morgan’s monohybrid
syndrome 2
cross
Cystic fibrosis

Summary
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 Pleiotropism

• Single gene exhibit multiple phenotypic expression

• Example: Effect of a gene on metabolic pathway which contributes to different
phenotype
Example - Phenylketonuria

• Effected enzyme : Phenylalanine Hydroxylase (Enzyme is either missing or severely

reduced.)
• Caused due to single gene mutation.
• So the metabolic pathway associated with the enzyme is disrupted and leads to
multiple phenotypes.

PHL
Phenylalanine Tyrosine Diseased state - phenylketonuria

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 Pleiotropism

Pleiotropy in humans

Sickle cell anaemia

Phenylketonuria

Kartagener’s syndrome

Cystic fibrosis

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 Sickle Cell Anaemia

• Single gene exhibit multiple phenotypic expression

• Causative genes alter the type of haemoglobin and also change the form
of RBCs.

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 Pleiotropism - Phenylketonuria

Skin
pigmentations

Symptoms of Reduction
in hair
phenylketonuria

Mental
retardation

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 Phenylketonuria(PKU)
● It is an autosomal recessive metabolic disorder resulting from lack
of an enzyme known as phenylalanine hydroxylase (PHL).
● PHL helps to convert phenylalanine into tyrosine.

PHL-Phenylalanine hydroxylase

Normal Phenylalanine PHL

Tyrosine

PHL
Diseased Phenylalanine Tyrosine

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 Phenylketonuria
PHL
Phenylalanine Tyrosine

Accumulation of Phe to
Deficiency of Tyr
toxic levels
● Phenylketonuria results in accumulation of phenylalanine to toxic levels
and the deficiency of tyrosine.
● Tyrosine is required for synthesis of various neurotransmitters.
● Tyrosine deficiency results in reduced brain development and other
neurological conditions.
● Excess presence of PHL in cerebrospinal fluid (CSF) causes mental
retardation, intellectual disability and mental disorders.

PHL- Phenylalanine hydroxylase

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 Phenylketonuria
Symptoms

● Small sized head (microcephaly)

● Learning disability and delayed development

Microcephaly ● Neurological disorders

● Behavioural, emotional and social problems

● Fatigue

Normal sized head

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 Phenylketonuria(PKU)
Carrier x Carrier

Pp Pp

P p P p P p

P PP Pp

p Pp pp
PP Pp Pp pp

Unaffected Carrier Progeny Affected

progeny PP (50%) Pp progeny pp
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 Phenylketonuria
Unaffected x Carrier

PP Pp
P P
P P P p
P PP PP

p Pp Pp
PP Pp PP Pp
Unaffected Carrier Unaffected Carrier
progeny progeny progeny progeny
PP Pp PP Pp
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 Phenylketonuria
Unaffected x Affected

PP pp
p p
P P p p

P Pp Pp

P Pp Pp
Pp Pp Pp Pp

Carrier progeny
Pp
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 Inheritance Pattern in Phenylketonuria
If both the parents are carriers:
Affected

Unaffected

Gen I Carrier

Gen II

Gen III

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 Kartagener’s Syndrome

● An abnormal condition inherited as an

autosomal recessive trait and characterized
by situs inversus.
○ Situs inversus is a condition in which the
organs are arranged in a mirror
positions of the normal positions.
● There is lateral disposition of the viscera
such as of the heart or the liver,
abnormalities in the protein structure of cilia
and chronic bronchiectasis and sinusitis. Normal Dextrocardia

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 Kartagener’s Syndrome
● These patients lack dynein protein in all their ciliated and flagellated
cells rendering these structures immotile.
● Males with disease are sterile (have immotile sperm) and are
susceptible to bronchial infections (immotile respiratory cilia) and a
50 percent chance of having their heart on the right side of their
body.
● These patients lack dynein protein in all their ciliated and flagellated
cells rendering these structures immotile.
● Males with the disease are sterile (have immotile sperm) and are
susceptible to bronchial infections (immotile respiratory cilia) and a
50 percent chance of having their heart on the right side of their
body.
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 Cystic Fibrosis

● It is a metabolic disorder that is controlled by a single autosomal

recessive gene.
● The gene specifies an enzyme that produces a unique glycoprotein
responsible for production of mucus with abnormally high viscosity.
● Viscous mucus interferes with the normal functioning of several
exocrine glands, including those in the skin (sweat), lungs (mucus),
liver and pancreas.
● Abnormally high levels of sodium chloride occur in the sweat, and
mucus stagnates in tubules of the lungs, which frequently become
infected, giving rise to bronchitis.
● Secreting cells in the liver and the pancreas are damaged,
decreasing production of fat-emulsifying agents and digestive
enzymes and thus interfering with digestion and absorption of food.

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 Introduction to TH Morgan and Drosophila
Reasons geneticists prefer using Drosophila as
experimental model:

● Has only 8 chromosomes in the nucleus of each cell

of its body Fruit fly
● Life cycle of two weeks (Drosophila melanogaster)
● Easily breeds in lab on synthetic media and requires
less labour
● Produces large number of progeny on mating
● Male and female sex are different
● Exhibits variation that is visible under low
microscope
Chromosomes of
Drosophila
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 Introduction to TH Morgan and Drosophila

● Thomas Hunt Morgan also used Drosophila to

study inheritance patterns.
● He received Nobel Prize for explaining the
role of chromosomes in heredity via
experiments.
● He is also called as the father of experimental
genetics.
TH Morgan

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 Introduction to TH Morgan and Drosophila

• For years, Morgan bred fruit flies on agar media

and studied their genetics.
• He wanted to induce mutations and obtain a
different variety of Drosophila.
• After some generations, he found some white Special type Normal type
eyed fruit fly in the batch, against normally Normal type = Wild type
observed red flies.
• He got curious and decided to experiment on the Special type = Mutant type
white eyed fruit flies.

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 Introduction to TH Morgan and Drosophila

Eye colour

• To begin with, Morgan decided to involve WILD TYPE MUTANT TYPE

white eyed Drosophila in a monohybrid cross.
• He took a pure type (homozygous) wild type
Drosophila, which had a red eye.
• He then took the mutant type Drosophila
which had white eye. Red eye White eye
• Then he crossed these two types.
w+w + wo

w : codes for white eyed fly

w+: codes for red eyed fly

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 Morgan’s Monohybrid Cross
Parental generation
Red eyed
female
(w+w +)

wo w+w
+ w+ w+
F1 generation

w w+ w w+ w
w+w w+w w+o w+o

Note: “o” represents the absence of an allele White eyed

since the character considered is X-linked and male o w+ o w+ o
not present on Y chromosome. (w o)
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 Morgan’s Monohybrid Cross
F1 generation
● All the offsprings in F1 generation w+
+
w were having red eyes.
● He concluded that red eye is the
w
dominant trait.
● The phenotype results of F1
generation were consistent with
Mendel’s results.
● However, all the progenies didn’t
have the same genotype as in
Mendel’s experiment.
● There were two different
Red eyed offspring (w+w) genotypes in 1:1 ratio. Red eyed offspring (w+o)

When Xw+ egg is fertilized by When Xw+ egg is fertilized by y

Xw sperm, the offspring gets sperm which has no allele the
w+w as genotype and red eye offspring gets w+o as
phenotype. genotype and red eye
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 Morgan’s Monohybrid Cross
● Morgan further crossed offspring obtained in F1 generation.
● In F2 generation, he found 3 red eyed flies and 1 white eyed fly. Red eyed
F1 generation female
(w + w)

+ +
w+ w
w o w w
F2 generation

w+ w+ w+ w+ w
w+ w+w w+o wo
w+ Red eyed
3 Red eyed flies : 1 white eyed fly
male
+
o w+ o wo
(w o)
Phenotypic ratio – 3:1
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 Morgan’s Monohybrid Cross
Red eyed
female
Observations and conclusions (w + w)

w+ w
● Morgan obtained genotype in the ratio
of 1:1:1:1.
● The genotype was different from
Mendel’s observation.
w+ w+ w+ w+ w
● However, he obtained the phenotypic
ratio of 3:1, the same as Mendel’s.
Red eyed
male
+
o w+ o wo
(w o)

Genotypic ratio – 1:1:1:1

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 Morgan’s Monohybrid Cross
F1 generation Observations and conclusions

● However, Morgan noticed that every

time he repeated this cross, he
w+o w+w obtained one white eyed male in F2
F2 generation generation but no white eyed female.
● This made him suspect whether the
eye color was linked to sex
chromosome in Drosophila.
● In order to confirm this hypothesis,
+ + +
w w w w o wo Morgan crossed heterozygous
+
w red-eyed females (Xw+Xw) with
3 red eyed flies : 1 white eyed fly white-eyed males (XwY).
Phenotypic ratio – 3:1

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 Morgan’s Monohybrid Cross
Observations and conclusions Red eyed
female
● This cross gave a phenotypic ratio of (w+w)
1:1:1:1 for male white eyed : female
white eyed : male red eyed : female red
eyed.
w+ w
● Morgan’s hypothesis was proved by this
cross since the white eye trait finally

●
appeared in female.
Morgan concluded that the w w +w ww
X-chromosome carried a number of
factors.
● For female Drosophila to have white White eyed
eye, each of the eye colour gene has to
be ww.
male
(wo)
o w +o wo
● Only then a female can have white eye.
Hence it is a very rare phenomena.
Genotypic ratio – 1:1:1:1
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 Summary
Pleiotropism
It is a phenomena where a single gene shows multiple phenotypic expressions.

Pleiotropy in humans

Sickle cell anaemia Cystic fibrosis

Phenylketonuria Kartagener’s syndrome

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 Summary
Morgan’s monohybrid cross

● Morgan noticed that in his monohybrid cross, he obtained one white

eyed male in F2 generation but no white eyed female.
● This made him suspect whether the eye color was linked to sex
chromosome in Drosophila.
● In order to confirm this hypothesis, Morgan crossed heterozygous
red-eyed females (Xw+Xw) with white-eyed males (XwY).
● This cross gave a phenotypic ratio of 1:1:1:1 for male white eyed :
female white eyed : male red eyed : female red eyed.
● Morgan concluded that the X-chromosome carried a number of factors.

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 Classes Notes
Principles of Inheritance and Variation
Linkage in Drosophila, Recombination in Drosophila,
Gene Mapping

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 Key Takeaways

Introduction to TH Morgan
1
and Drosophila

2 Morgan’s monohybrid cross

Morgan’s dihybrid cross A 3

4 Morgan’s dihybrid cross B

Summary
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 Introduction to TH Morgan and Drosophila
Reasons geneticists prefer using Drosophila
as experimental model:

● Has only 8 chromosomes in the nucleus of

each cell of its body Fruit fly
● Life cycle of two weeks (Drosophila melanogaster)
● Easily breeds in lab on synthetic media and
requires less labour
● Produces large number of progeny on mating
● Male and female sex are different
● Exhibits variation that is visible under low
microscope
Chromosomes of
Drosophila
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 Introduction to TH Morgan and Drosophila

● Thomas Hunt Morgan also used Drosophila to

study inheritance patterns.
● He received Nobel Prize for explaining the
role of chromosomes in heredity via
experiments.
● He is also called as the father of experimental
genetics.
TH Morgan

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 Introduction to TH Morgan and Drosophila

• For years, Morgan bred fruit flies on agar media

and studied their genetics.
• He wanted to induce mutations and obtain a
different variety of Drosophila.
• After some generations, he found some white Special type Normal type
eyed fruit fly in the batch, against normally Normal type = Wild type
observed red flies.
• He got curious and decided to experiment on the Special type = Mutant type
white eyed fruit flies.

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 Introduction to TH Morgan and Drosophila

Eye colour

• To begin with, Morgan decided to involve WILD TYPE MUTANT TYPE

white eyed Drosophila in a monohybrid cross.
• He took a pure type (homozygous) wild type
Drosophila, which had a red eye.
• He then took the mutant type Drosophila
which had white eye. Red eye White eye
• Then he crossed these two types.
w+w + wo

w : codes for white eyed fly

w+: codes for red eyed fly

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 Morgan’s Monohybrid Cross
Parental generation
Red eyed
female
(w+w +)

wo w+w
+ w+ w+
F1 generation

w w+ w w+ w
w+w w+w w+o w+o

White eyed
Note: “o” represents the absence of an allele
since the character considered is X-linked and
male o w+ o w+ o
not present on Y chromosome. (w o)
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 Morgan’s Monohybrid Cross
F1 generation
● All the offsprings in F1 generation w+
+
w were having red eyes.
● He concluded that red eye is the
w
dominant trait.
● The phenotype results of F1
generation were consistent with
Mendel’s results.
● However, all the progenies didn’t
have the same genotype as in
Mendel’s experiment.
● There were two different
Red eyed offspring (w+w) genotypes in 1:1 ratio. Red eyed offspring (w+o)

When Xw+ egg is fertilized by When Xw+ egg is fertilized by y

Xw sperm, the offspring gets sperm which has no allele the
w+w as genotype and red eye offspring gets w+o as
phenotype. genotype and red eye
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 Morgan’s Monohybrid Cross
● Morgan further crossed offspring obtained in F1 generation.
● In F2 generation, he found 3 red eyed flies and 1 white eyed fly. Red eyed
F1 generation female
(w + w)

+ +
w+ w
w o w w
F2 generation

w+ w+ w+ w+ w
w+ w+w w+o wo
w+ Red eyed
3 Red eyed flies : 1 white eyed fly
male
+
o w+ o wo
(w o)
Phenotypic ratio – 3:1
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 Morgan’s Monohybrid Cross
Red eyed
female
Observations and conclusions (w + w)

w+ w
● Morgan obtained genotype in the ratio
of 1:1:1:1.
● The genotype was different from
Mendel’s observation.
w+ w+ w+ w+ w
● However, he obtained the phenotypic
ratio of 3:1, the same as Mendel’s.
Red eyed
male
+
o w+ o wo
(w o)

Genotypic ratio – 1:1:1:1

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 Morgan’s Monohybrid Cross
F1 generation Observations and conclusions

● However, Morgan noticed that every

time he repeated this cross, he
w+o w+w obtained one white eyed male in F2
F2 generation generation but no white eyed female.
● This made him suspect whether the
eye color was linked to sex
chromosome in Drosophila.
● In order to confirm this hypothesis,
+ + +
w w w w o wo Morgan crossed heterozygous
+
w red-eyed females (Xw+Xw) with
3 red eyed flies : 1 white eyed fly white-eyed males (XwY).
Phenotypic ratio – 3:1

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 Morgan’s Monohybrid Cross
Observations and conclusions Red eyed
female
● This cross gave a phenotypic ratio of (w+w)
1:1:1:1 for male white eyed : female
white eyed : male red eyed : female red
eyed.
w+ w
● Morgan’s hypothesis was proved by this
cross since the white eye trait finally

●
appeared in female.
Morgan concluded that the w w +w ww
X-chromosome carried a number of
factors.
● For female Drosophila to have white White eyed
eye, each of the eye colour gene has to
be ww.
male
(wo)
o w +o wo
● Only then a female can have white eye.
Hence it is a very rare phenomena.
Genotypic ratio – 1:1:1:1
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 Idea of Linkage

● Besides Morgan, several other scientists such as Punnett and colleagues

were trying to carry forward Mendel’s work.
● Punnett and colleagues in their experiments on the sweet pea, noticed
that the dihybrid cross phenotypic ratio in F2 generation deviated majorly
from the Mendelian ratio of 9:3:3:1.
● They found that the parental combination of traits tended to appear in
higher ratio in F2 generation and non-parental combination of traits were
rare.
● These results along with Morgan’s own discovery of linkage of certain
genes with sex chromosomes led him to believe that various genes
existed on single chromosomes and such genes, which existed on same
chromosomes, failed to assort independently.
● Hence, he hypothesized the probability of linkage between genes.

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 Morgan’s Dihybrid Cross A
● Morgan then went on to perform dihybrid cross in the Drosophila.
● He crossed a pure breed Drosophila with dominant traits with a pure breed Drosophila
with recessive traits.
● He took characters that he knew were present on same chromosome and hence would
show linkage.
● He considered the following two characters:
Character 1 - Body colour Character 2 - Eye colour
MUTANT TYPE WILD TYPE MUTANT TYPE WILD TYPE

Yellow body Brown body White eye Red eye

yy y+y+ ww w+w +
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 Morgan’s Dihybrid Cross A

Homozygous Homozygous Female

recessive parent dominant parent (yyww)

yw yw

yy+ww+ yy+ww+
y+w+
Brown bodied Brown bodied
Yellow bodied, Brown bodied, Red eyed Red eyed
white eyed red eyed
Male
y w y+ w+ (y+w+) yowo yowo
oo Yellow bodied Yellow bodied
y w White eyed White eyed
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 Morgan’s Dihybrid Cross A

Note:

● In the above Punnett square, male Drosophila gives rise to two

gametes, one containing X chromosome and the other
containing the Y chromosome.
● However, both the characters in this dihybrid cross are X-linked,
that is they are only found on X chromosome.
● Hence, the gamete with Y chromosome doesn’t contribute any
allele for the two characters.

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 Morgan’s Dihybrid Cross A

Observations from the results obtained in F1 generation :

● The results obtained were inconsistent with the results

obtained in Mendel’s experiments.
● The F1 generation not only showed the dominant phenotype
(as in Mendel’s experiments) but also the recessive
phenotype.
● This was due to the fact that the characteristics considered
are X-linked and the Y chromosome contributed no alleles.
● Hence, expression of recessive phenotype occurred from only
one allele obtained from the female parent.

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 Morgan’s Dihybrid Cross A
F1 generation:
y w y w
● Morgan then crossed the two y+ w+
different type of progenies
obtained in the F1 generation.
● However, this time, female was the
dominant parent while male was
the recessive parent.
● The dominant parent was
heterozygous and not
homozygous. Brown bodied Yellow bodied
Red eyed White eyed

F1 crossing
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 Morgan’s Dihybrid Cross A

F1 generation gametes:

Since, the gametes are on same chromosomes and hence linked, only these 4 gametes are
possible.

y w y+ w+ y w

Gametes

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 Morgan’s Dihybrid Cross A
F2 generation (Ideal hypothetical outcome):
Female
(yy+ww+) male
● This is the ideal cross outcome
that would result if the genes y+w+ yw
were linked.
● Phenotypic ratio would be 1:1 for
Brown bodied red eyed : Yellow yy+ww+ yyww
bodied white eyes. yw
● However, this did not happen. Brown bodied Yellow bodied
Red eyed White eyed

Male y+ow+o yowo

(yowo) oo Brown bodied Yellow bodied
Red eyed White eyed
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 Morgan’s Dihybrid Cross A
F2 generation (Actual outcome):

Yellow bodied Brown bodied Red Brown bodied Yellow bodied

White eyed eyed White eyed Red eyed

Parental progenies Non-parental progenies

● Morgan saw the appearance of non-parental phenotypes and obtained 4 different types
of phenotypes as Mendel did in his dihybrid cross experiments.
● Despite the unexpected results, Morgan was convinced that linkage was there because
the percentage of parental type progenies was very high compared to non-parental type
progenies.
● Individuals with both the recessive traits appeared in equal numbers to individuals with
both the dominant traits, in stark contrast to Mendel’s F2 dihybrid ratio.
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 Morgan’s Conclusions

Based on all the above observations, Morgan concluded that:

● Higher percentage of individuals with both the recessive traits in F2

generation was due to the fact they were the parental type.
● Higher percentage of individuals with parental type trait combination was
due to linkage between the two genes.
● The presence of non-parental type individuals was due to a phenomenon
called recombination.

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 Linkage
● Linkage is the association of two genes located
on the same chromosome. Chromosome
● Linkage describes the probability of the two crossover
genes being inherited together.
● Since genes of both characters that Morgan
chose were on the same X chromosome, thus
they were inherited together as chromosomes
are passed on as single units from one
generation to the other.
● Yet, there is a phenomenon of crossing over, first
Recombinant
described by Sutton and Boveri, that occurs in chromatids
prophase, which gave Morgan the clue for
presence of the phenomenon of recombination.

y w Crossing over y+ w
+ +
y w yy+ w+
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 Arrangement of Linked Genes

Arrangement of linked genes

Cis-arrangement Trans-arrangement

● In this arrangement, dominant alleles of both the linked

genes are present on one chromosome and their
recessive alleles on its homologous chromosome
(AB/ab).
● This arrangement is known as cis-arrangement and
genes are said to be in coupling state.
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 Arrangement of Linked Genes

Arrangement of linked genes

Cis-arrangement Trans-arrangement

● In this arrangement, dominant allele of one pair and

recessive allele of the second pair are present on one
chromosome and recessive and dominant alleles
respectively on the other homologous chromosome (Ab/aB).
● This arrangement is known as trans-arrangement and genes
are said to be in repulsive state.
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 Recombination
• To explain the occurrence of non-parental type of progenies even in case of a dihybrid
cross where the characters considered were on same chromosomes and hence linked,
Morgan introduced the concept of recombination.
• Recombination is the phenomenon in which a part of the chromosome is exchanged or
crossed over between two homologous chromosomes during prophase.
• Crossing over leads to new alleles or new allelic combination in offspring.
• Hence, even though Morgan expected only 4 different type of gametes from F1
generation, actually 6 different type of gametes appeared due to recombination.

y w

y w Expected Gametes that appeared y+ w

+ + gametes due to recombination y w+
y w

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 Morgan’s Dihybrid Cross A
Non-parental Drosophila genotype

y+ w y w+ y+ w y w+

y w y w

Brown bodied Yellow bodied Brown bodied Yellow bodied

White eyed Red eyed White eyed Red eyed

Thus, it was because of recombination that non-parental

varieties of Drosophila were obtained.
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 Morgan’s Dihybrid Cross A
Morgan took his research forward and tried to find out the percentage of
parental type offspring and non-parental type of offspring found in the given
dihybrid cross

Yellow bodied Brown bodied

White eyed Red eyed

F2 generation Cross A
Parental type 98.7%

Non-Parental type 1.3%

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 Morgan’s Dihybrid Cross B
● Morgan wanted to check if similar ratio of parental and non-parental type would be
observed if he changed to a different pair of characteristics, essentially studying a different
set of genes simultaneously.
● He took the following two characters for this second dihybrid cross.

Character 1 – Wing size Character 2 -Eye colour

MUTANT TYPE WILD TYPE MUTANT TYPE WILD TYPE

Miniature wings Normal wings White eye Red eye

mm m+m + ww w+w
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 Morgan’s Dihybrid Cross B
● Morgan hence crossed homozygous dominant normal wing red eyed male with
homozygous recessive miniature wing white eyed female.

w m Parents w+ m+

w m

Gametes

w m

w m

w+ m+

Miniature wings Normal wings

White eye Red eye
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 Morgan’s Dihybrid Cross B
● Just as in dihybrid cross A, Morgan got the parental type phenotypes in F1 generation in
1:1 ratio. However, the parent with dominant phenotype was homozygous and not
heterozygous.
● In F1, even though the parental phenotypes were obtained, the individuals were
heterozygous.
● Hence, he crossed heterozygous dominant female with recessive male.
w m
Gametes
F1 w m

w+ m+ w m

Expected w+ m+
gametes
w m

Recombinant w+ m+m
Normal wings Miniature wings
Red eye White eye gametes w m+
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 Morgan’s Dihybrid Cross B
F2 generation (Parental type)

w m w m w m w+ m+

w m w+ m+

Miniature wings Normal wings Miniature wings Normal wings

White eye Red eye White eye Red eye As expected, he
obtained the two
parental type
phenotypes
formed by 4
different
genotypes.

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 Morgan’s Dihybrid Cross B
Non-parental Drosophila phenotype

w+ mm+ w m+ w+ mm+ w m+

w m w m

Miniature wing Normal wing Miniature wing Normal wing

Red eyed White eyed Red eyed White eyed Further, he also
obtained two
non-parental
phenotypes formed by
4 different genotypes
involving recombinant
chromosomes.

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 Morgan’s Dihybrid Cross B

● However, he noticed a
massive difference in the
percentages of parental and Wing size and eye
the non-parental F2 generation
colour (cross B)
phenotypes.
● Non-parental phenotypes Parental type 62.8%
were much higher in number
in this dihybrid Cross B.
● This result suggested that Non-parental type 37.2%
the linkage between the
genes of the two characters
considered in this cross was
much lower.

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 Linkage and Recombination

Hence, Morgan arrived on the following conclusion:

● Recombination is inversely
1 proportional to linkage
Recombination ● Tighter the linkage - Lesser
Linkage the chance of recombination
● Lesser the linkage - Higher
the chance of recombination

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 Gene Mapping

● The tool for locating and relatively mapping genes on the

chromosomes.
● Gene mapping is also called linkage mapping.
● Gene mapping involves graphical representation of the linear
sequence of genes and their relative distances on a
chromosome.

Terms associated with gene mapping:

● Unit to measure distance between genes is centiMorgan (cM)
or map unit (m.u).
● One map unit corresponds to minimum physical length of
chromosome which is required for crossing over.
● Frequency of crossing over is proportional to the distance
between genes.

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 Gene Mapping

● 1 cM = 1% Recombination Recombinants X 100

frequency Recombination
● % Recombination - relative Frequency (RF) Total number of offspring
distance between genes

Using all these aspects and

calculations, a gene map is
constructed.

Representation of gene
mapping of a chromosome
of Drosophila.

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 Summary
Morgan’s monohybrid cross

● Morgan noticed that in his monohybrid cross, he obtained one white eyed male in F2
generation but no white eyed female.
● This made him suspect whether the eye color was linked to sex chromosome in
Drosophila.
● In order to confirm this hypothesis, Morgan crossed heterozygous red-eyed females
(Xw+Xw) with white-eyed males (XwY).
● This cross gave a phenotypic ratio of 1:1:1:1 for male white eyed : female white eyed :
male red eyed : female red eyed.
● Morgan concluded that the X-chromosome carried a number of factors.

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 Summary

● Morgan further conducted two different types of dihybrid crosses:

○ First one between red eyed, brown bodied Drosophila and

white eyed, yellow bodied Drosophila.
○ Second one between normal wings, red eyed and miniature
wing, white eyed Drosophila.
○ He discovered that the percentage of parental type individuals
was very high (possibly due to linkage) which was inconsistent
with Mendel’s results.
○ Also, non-parental type individuals appeared despite the
genes being present on the same chromosome (possible due
to recombination).
○ Consequently, he came up with the theories of linkage and
recombination.
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 Summary
Linkage
● Linkage is the association of two genes located on the same
chromosome.
● Linkage describes the probability of the two genes being inherited
together.

Recombination
• Recombination is the phenomenon in which a part of the
chromosome is exchanged or crossed over between two
homologous chromosomes during prophase.
• Crossing over leads to new alleles or new allelic combination in
offspring.
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 Summary
1
Recombination
Linkage

● Gene mapping involves graphical representation of the linear sequence of genes and
their relative distances on a chromosome.

● 1 cM = 1% Recombination Recombinants X 100

frequency Recombination
● % Recombination - relative Frequency (RF) Total number of offspring
distance between genes

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 Classes Notes
Principles of Inheritance and Variation
Mutation, Types of Mutations and Pedigree Analysis

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 Key Takeaways

Gene Mapping 1

2 Mutation

Pedigree analysis 3

Summary
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 Gene Mapping

● The tool for locating and relatively mapping genes on the

chromosomes.
● Gene mapping is also called linkage mapping.
● Gene mapping involves graphical representation of the linear
sequence of genes and their relative distances on a
chromosome.

Terms associated with gene mapping:

● Unit to measure distance between genes is centiMorgan (cM)
or map unit (m.u).
● One map unit corresponds to minimum physical length of
chromosome which is required for crossing over.
● Frequency of crossing over is proportional to the distance
between genes.

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 Gene Mapping

● 1 cM = 1% Recombination Recombinants X 100

frequency Recombination
● % Recombination - relative Frequency (RF) Total number of offspring
distance between genes

Using all these aspects and

calculations, a gene map is
constructed.

Representation of gene
mapping of a chromosome
of Drosophila.

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 Recall! Gene
Coding gene

Protein
● Genes code for specific proteins, which have specific functions giving rise to specific
characteristics.
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 Recall! DNA - Sequence of Nucleotides

DNA (Deoxyribonucleic acid)

● DNA contains base pairs which carry genetic information

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 Recall! Human Karyotype

1 2 3 4 5 6 7 8

9 10 11 12 13 14 15 16
Sex
or
chromosomes
17 18 19 20 21 22 XX XY

● Out of the 23 pairs of genes in humans, 22 are autosomal chromosomes, and X and Y are
sex chromosomes.
● Genes that are inherited via the sex chromosomes are called sex-linked, and the inheritance
is called sex-linked inheritance.
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 Recall! S-phase of Cell Cycle
G2

M phase

CELL CYCLE

G1

● DNA synthesis and duplication takes place during S

phase.

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 Recall! Anaphase of Meiosis
Anaphase I Anaphase II

Centromeres divide,
chromatids move to the opposite poles
of the cells

Sister
chromatids Homologous
chromosomes

Homologous chromosomes move to the Sister chromatids separate

opposite poles of the cell

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 Genotype
● Genotype is the genetic constitution of a living organism.
● It is the sum total of genes inherited from both the parents.

23 23 46
chromosomes chromosomes chromosomes

Fertilisation

Ovum Sperm
Zygote
from the mother from the father

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 Phenotype
Phenotype can be defined as the observable characteristics of an organism.

Wavy hair

Brown eyes
Lighter skin
Round colour
face

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 Normal v/s Mutated Product
Normal gene Mutated gene

Mutated gene
either codes for
abnormal protein
or does not code
or for any protein.

No
protein
Abnormal
Normal protein protein

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 Mutation
● Mutation is a phenomenon that results in alteration of DNA sequences
and consequently results in changes in the genotype and phenotype.
● Mutations occuring at DNA level are called genetic mutations and
those at the chromosomal level are called chromosomal mutations.

DNA level Chromosomal level

Genetic mutations Chromosomal mutations

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 DNA Level Mutation
A G T T G

T C G A C

Mismatched base pairs

Error
● Adenine (A) normally binds with Thymine (T) and Guanine (G) with
Cytosine (C).
● At the DNA level, a change in the nucleotide base sequence may
occur, resulting in mismatched base pairs.
● This is referred to as point mutation.
● These errors can be due to addition of an improper nucleotide, or an
extra nucleotide or also because of removal of a nucleotide.
● They ultimately result in the production of an improper protein or no
protein or cause no change in the protein produced (silent mutation).
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 Chromosomal Level Mutation
Abnormal
● Errors can result from improper
spindle distribution of chromosomes during cell
division.
Anaphase
● This occurrence is called as
nondisjunction.

● These errors occur when the duplicated

genetic material is getting distributed
Cytokinesis
between the daughter cells, during
anaphase.

● Such errors lead to chromosomal

Missing Extra mutations, as they occur at the
chromosome chromosome chromosomal level.
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 Causes of Mutations

Internal External

● Natural, spontaneously
● Introduction of changes in the
occurring unpredictable
DNA through external agents
changes in the DNA cause
cause mutations
mutations

● Requires presence of mutagen

● Absence of mutagen

Mutagen is any substance that changes the genetic material of an organism

and causes mutation.

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 S-Phase Problems
● DNA duplication takes place during S-phase.
● It involves the formation of new strand by the
addition of new nucleotides.

A G T T G
New Original
strand DNA T G A C
strand
Original
DNA Missing base Mismatched
strand New
strand base pairs

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DNA Replication
 The UV Effect

Two adjacent
thymine
residues Thymine-thymine
dimer
UV radiation
from the sun
DNA
helix

UV radiation can dimerize the DNA base and hence damaging the DNA structure and arrangement.
Thus, the UV radiations result in mutations.
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 External Agents Causing Mutations

Physical agents Biological agents

Example : Radiation like UV rays
Example : Viruses and bacteria
and X-rays

Chemical agents
Example : Cigarette compounds,
benzoyl peroxide

xid l
ro oy
e
Pe enz
B

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 Types of Mutations
Germ–line mutations Somatic mutations

Parental
Germ-line gametes
mutation

Mutation
Embryo

Entire Patch of
organism carries affected area
the mutation Organism

Half of the None of the

gametes Gametes of gametes
carry mutation offspring carry mutation

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 Effects of Mutations
1. No change 2. Minor change 3. Major change

● No noticeable effect on ● Causes minor changes in ● Can have strong

the phenotype the phenotype of the negative effects on the
organism phenotype of organism
● Causes no change in the
amino acid sequence ● Not dangerous for ● Can cause death of the
survival of the organism organism
● Also known as silent
mutations ● Also called lethal
mutation

Sickle red blood

cells,
blocking the
blood flow

Healthy red blood

cell

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Sickle cell anaemia
 Change in the sequence of nucleotide in DNA
is called as

A mutagen

B mutation

C recombination

D translation

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 Change in the sequence of nucleotide in DNA
is called as

A mutagen

B mutation

C recombination

D translation

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 Pedigree Analysis

● Pedigree analysis is the study of a particular trait that is inherited from one
generation to another.
● It helps to understand the pattern of inheritance for a particular trait.
● It also helps to know whether the trait is dominant or recessive.
● Propositus is the name given to the person/organism for whom the
analysis is made.
● The entire family history data of the propositus is mandatory for pedigree
analysis.
● The history of the character trait under investigation is mapped by the
investigator.
● In the pedigree chart, standard symbols are used.

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 Pedigree Chart
A pedigree chart is a representation of a family chart showing
the transmission of a particular trait or disease

II

III

IV
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 Summary

● Mutation
○ A phenomenon that results in alteration of DNA sequences or
chromosomes which consequently brings in changes in the
genotype and phenotype.

Types of mutations

Germ-line Somatic

They are passed on to They are not passed on

the offsprings. to the offsprings.

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 Summary

● Pedigree analysis
○ It is the study of a particular trait that is inherited from
one generation to another.
○ It helps to understand the pattern of inheritance for a
particular trait, and also to know whether the trait is
dominant or recessive.

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 Classes Notes
Principles of Inheritance and Variation
Pedigree Analysis and Genetic disorders - Haemophilia

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 Key Takeaways

Pedigree analysis 1

2 Genetic disorders

Mendelian disorders 3

Haemophilia

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Summary
 Recall! Blood Clotting

Fibrin

Platelets
Blood clotting ingredients

Clotting factors

Blood cells

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 Recall! Blood Clotting
Damaged tissue Platelets in
outside vessel damaged
blood vessel

Cascade of Cascade of
clotting factors clotting factors

Ca2+ Prothrombin Ca2+

activator

Prothrombin Thrombin
Ca2+
Stable
Fibrinogen Fibrin
clot
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 Pedigree Analysis
A pedigree chart is a representation of a family chart showing
the transmission of a particular trait or disease.

II

III

IV
© 2021, BYJU'S. All rights reserved
 Did You Know?

● Pedigree is derived from the French phrase “pied de gru”

which means foot of a crane.

● The lines and the split lines used in the chart resemble
the thin leg and tiny foot of the crane.
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 Uses of Pedigree Analysis

● Allows better understanding of transmission of genes within

a family

● Can help in predicting the occurrence of a disease prevalent

in the family

● Useful in genetic counselling

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 Understanding the Symbols

Unaffected/Normal Unaffected/Normal Sex

Affected female Affected male Carrier female Carrier male
male female unspecified

Carrier female Carrier male Deceased female and male Marriage

Consanguineous marriage
Fraternal twins (non-identical) Identical twins

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 Understanding the Symbols

● Parents and 1 boy and 1 girl (in order of

birth) I

● Roman number - Generation

● Arabic number - No. of individual children II

1 2

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 Genetic Disorders

Mendelian Chromosomal
disorders disorders

Sex-linked Autosomal

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 Mendelian Disorders

Sex-specific Sex-linked Autosomal Not sex-specific

Dominant Recessive Dominant Recessive

● Mendelian disorders are mainly determined by alteration or mutation in a single gene.

● The pattern of inheritance of such Mendelian disorders can be traced in a family by the
pedigree analysis.

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 Haemophilia
● Haemophilia is an X- linked, inherited genetic disorder that impairs the body’s
ability to make clots.
● A person suffering from haemophilia either has low supply of one of the factors
needed to clot blood or completely lacks those factors.
● Two common factors that affect blood clotting are factor VIII and factor IX.

Haemophilia

Haemophilia A Haemophilia B Haemophilia C

Factor VIII Factor IX Factor XI

Approximately 85% Caused by a Caused due to

of hemophiliacs have deficiency of lack of clotting
type A disease. factor IX. factor XI.
© 2021, BYJU'S. All rights reserved
 Haemophilia

● It is sex-linked disease which is also known as bleeder’s disease.

● The patient will continue to bleed even from a minor cut.
● It is due to the presence of a recessive sex linked gene ‘h’, carried by
X-chromosome.
● A female becomes haemophilic only when both its X chromosomes carry the
gene (XhXh).
● Such females generally die before birth because the combination of these
two recessive alleles is lethal.
● A female having only one allele for haemophilia (XXh) appears normal.
● Such females are known as carriers.
● In case of males, a single gene for the defect is able to express itself as the
Y-chromosome is devoid of any corresponding allele (XhY).

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 Haemophilia

● Haemophilia is also called Royal disease as it has been quite

common in the royal families of europe.
● The disease spread to them through the children of Queen
Victoria.
● The ancestors of the queen did not possess the disease.
● It appears that the gene for haemophilia developed either in
the germ cells of her father or herself through mutation.
● Being sex-linked, the gene for haemophilia shows criss-cross
inheritance.
● Its frequency is 1 in 7000 in human males and 1 in 10000000 in
females.

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 Haemophilia
Carrier mother x Unaffected father

Carrier mother with Unaffected father

haemophilia gene without haemophilia
XX XY

XX XY XX XY
Carrier daughter Son with Daughter without Unaffected son without
with haemophilia haemophilia haemophilia haemophilia gene
gene

Pedigree chart

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 Haemophilia
Carrier mother x Affected father

Carrier mother with Father with

haemophilia gene haemophilia
XX XY

XX XY XX XY
Daughter with Son with Carrier daughter Unaffected son without
haemophilia haemophilia with haemophilia haemophilia gene
gene

Pedigree chart

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 Haemophilia
● The heterozygous female (carrier) for
haemophilia may transmit it to the sons.

● The possibility of a female becoming a

x x haemophilic is extremely rare because
mother of such a female has to be at
XX XY XX XY least carrier and the father should be
haemophilic.

● Males are more likely to get this disease

than females.

● The family pedigree of Queen Victoria

shows a number of haemophilic
XY XX descendents as she was a carrier of the
Possibility when mother Possibility when mother disease.
is carrier and father is is carrier and father is
unaffected affected
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 Haemophilia
Unaffected mother x Affected father

Mother without Father with

haemophilia
X haemophilia
XX XY

XX XX XY XY

Carrier daughters with Unaffected sons without

haemophilia gene haemophilia gene

Pedigree chart

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2 2
 Haemophilia
Affected mother x Unaffected father

Mother with X Father without

haemophilia haemophilia
XX XY

XX XX XY XY

Carrier daughters with Affected sons with

haemophilia gene haemophilia gene

Pedigree chart

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2 2
 Did You Know?

● Haemophilia B is also known as Christmas disease.

● The disorder was first reported in 1952 in a 5-yr old patient

with the name of Stephen Christmas.
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 Summary
Understanding the symbols

Unaffected/Normal Unaffected/Normal Sex

male female unspecified Affected female Affected male Carrier female Carrier male

Carrier female Carrier male Deceased female and male Marriage

Consanguineous marriage Fraternal twins (non-identical) Identical twins

© 2021, BYJU'S. All rights reserved
 Summary
Mendelian disorders

Autosomal Sex- linked

Haemophilia

Haemophilia is an inherited genetic disorder that

impairs body’s ability to make clots.

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 Classes Notes
Principles of Inheritance and Variation
Colour Blindness, Sickle Cell Anemia, Thalassemia
and Phenylketonuria

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 Key Takeaways

Mendelian disorders

Colour blindness

Sickle cell anemia

Thalassemia

Phenylketonuria

Summary
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 Recall! Human Karyotype

1 2 3 4 5 6 7 8

9 10 11 12 13 14 15 16
Sex
or
chromosomes
17 18 19 20 21 22 XX XY

● Out of the 23 pairs of chromosomes in humans, 22 are autosomal chromosomes, and X and
Y are sex chromosomes.
● Genes that are inherited via the sex chromosomes are called sex-linked, and the inheritance
is called sex-linked inheritance.
© 2021, BYJU'S. All rights reserved
 Recall! Pedigree Chart
A pedigree chart is a representation of a family chart showing
the transmission of a particular trait or disease.

II

III

IV
© 2021, BYJU'S. All rights reserved
 Recall! Genetic Disorders

Mendelian Chromosomal
disorders disorders

Sex-linked Autosomal

© 2021, BYJU'S. All rights reserved

 Recall! Mendelian Disorders

Sex-specific Sex-linked Autosomal Not sex-specific

Dominant Recessive Dominant Recessive

● Mendelian disorders are mainly determined by alteration or mutation in a single gene.

● The pattern of inheritance of such Mendelian disorders can be traced in a family by the
pedigree analysis.

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 Colour Blindness
● Sex-linked recessive disorder due to defect in either red or green cones
of eye resulting in failure to discriminate between red and green colour.
● Results from mutation in the X chromosome.
● Females are usually carriers, whereas males are more commonly affected
by the disorder.

1 2 3 4 5 6 7 8
Mutation in
X chromosome
9 10 11 12 13 14 15 16

or
17 18 19 20 21 22 XX XY
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 Colour Blindness

● Vision is, however, not affected and the colour blind person can
lead a normal life.

● The gene for the normal vision is dominant.

● The normal gene and its recessive allele are carried by

X-chromosomes.

● In females, colour blindness appears only when both the sex

chromosomes carry the recessive gene (Xc Xc).

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 Colour Blindness

0.4 %

8%

● Females are usually carriers.

● Males are at higher risk of getting colour blindness as they

have only 1 X-chromosome whereas females have 2.

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 Colour Blindness
Carrier mother x Unaffected father

Carrier mother with X Unaffected father without

colour blind gene XX XY colour blind gene

XX XY XX XY
Carrier daughter Affected son with Unaffected children
with colour blind colour blind gene without colour blind gene
gene

Pedigree chart

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 Colour Blindness
Carrier mother x Affected father

Carrier mother with x Affected father with

colour blind gene colour blind gene
XX XY

XX XY XX XY
Affected daughter Affected son Carrier daughter Unaffected son
with colour with colour with colour without colour
blind gene blind gene blind gene blind gene

Pedigree chart

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 Colour Blindness
Affected mother x Unaffected father

Affected mother with Unaffected father without

colour blind gene X colour blind gene
XX XY

XX XX XY XY

Carrier daughters with Affected sons With

colour blind gene colour blind gene
Pedigree chart

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2 2
 Which of the following figures represent parents
with a female child affected with a disease?

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 Which of the following figures represent parents
with a female child affected with a disease?

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 Sickle Cell Anemia (SCA)
Haemoglobin - The oxygen transporter
● Haemoglobin (Hb) present in the RBCs are important
for carrying O2 and CO2 across the body.
● Hb is a protein that has 2 alpha globin chains and 2
beta globin chains.

α α

β β

Haemoglobin

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Erythrocyte
 Sickle Cell Anemia (SCA)
● Sickle cell anemia is an inherited red blood cell disorder in which there
aren't enough healthy red blood cells to carry oxygen throughout the body.
● Affected person has abnormal haemoglobin.
● It is an autosomal recessive disorder.
● A mutation in the Hb gene causes abnormal Hb synthesis resulting in the
formation of sickle shaped cells.
● This change is caused by a single change of amino acid in the Hb protein.
● Glutamic acid in the 6th position of the beta globin chain is replaced by
Valine, which causes change in Hb and thereby in RBCs, from biconcave to
sickle shaped.
● This results in aggregation of RBCs in the blood capillaries leading to
blockage of arteries.
● Sickle shaped RBCs also get destroyed faster than normal RBCs, resulting in
severe anemia.
© 2021, BYJU'S. All rights reserved
 Sickle Cell Anemia (SCA)
Normal RBCs vs Sickled RBCs

Normal amino acid sequence Single change in amino acid sequence

Thr Pro Glu Glu Thr Pro Val Glu

4 5 6 7 4 5 6 7

Normal red blood cells Sickle shaped red

blood cells

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 Sickle Cell Anaemia (SCA)

Normal
hemoglobin
A gene (HbA)
Mutation Abnormal adult
Hemoglobin hemoglobin (HbS) Sickle trait (HbS)
gene

HbAHbA HbAHbS HbSHbS

Normal Carrier SCA
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 Sickle Cell Anemia (SCA)
Restricted and normal blood flow

Sickle red blood cells,

blocking the blood flow

Healthy red blood cell

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 Sickle Cell Anemia (SCA)
Inheritance (Carrier x Carrier)

HbAHbS HbAHbS HbA HbS

HbA HbS HbA HbS HbA HbAHbA HbAHbS

HbS HbAHbS HbSHbS

HbAHbA HbAHbS HbAHbS HbSHbS

Normal Carrier Carrier SCA

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 Sickle Cell Anemia (SCA)
Inheritance (Affected x Carrier)

HbSHbS HbAHbS HbA HbS

HbS HbAHbS HbSHbS

HbS HbS HbA HbS

HbS HbAHbS HbSHbS

HbAHbS HbAHbS HbSHbS HbSHbS

Carrier Carrier SCA SCA
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 Sickle Cell Anemia (SCA)
Inheritance (Unaffected x Carrier)

A A A S HbA HbS
Hb Hb Hb Hb

A A A S
HbA HbAHbA HbAHbS
Hb Hb Hb Hb

HbA HbAHbA HbAHbS

HbAHbS
HbAHbA HbAHbA HbAHbS
Normal Normal Carrier Carrier
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 Inheritance Pattern in Sickle Cell Anemia
If both the parents are carriers:

Gen I

Gen II

Gen III

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 Thalassemia
● It is a rare inherited autosomal blood disorder resulting from inadequate Hb
synthesis.
● It results in the extreme destruction of red blood cells that leads to anaemia.
● If any of the parents have thalassemia, the baby is likely to develop a
disease called “thalassemia minor”.
● If both the parents suffer from this disease, the child is more likely to get the
disease.
● It was discovered by Cooley but the term was given by Whipple and
Bradford after its prevalence in mediterranean region.
● Thalassemia is autosomal recessive blood disease which appears in children
of two unaffected carriers (heterozygous parents).
● The defect can occur due to mutation or deletion of the genes controlling
the formation of globin chains (commonly α and β) of haemoglobin.
● Imbalanced synthesis of globin chains of haemoglobin causes anaemia.

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 Thalassemia
Haemoglobin (Hb)
α globin chains (each
with 141 amino acids)

Heme group with Fe in the

centre around a porphyrin ring

β globin chains (each

with 146 amino acids)
© 2021, BYJU'S. All rights reserved
 Thalassemia

Mendelian
disorders Beta Alpha
thalassemia thalassemia

Autosomal

Thalassemia
Dominant Recessive

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 Thalassemia
Alpha thalassemia Beta thalassemia

Abnormal Hb Abnormal Hb
with affected with affected
α globin chains ß globin chains

HBB
Chromosome HBA 1 Chromosome 11 gene
HBA 2 16 alpha gene
gene beta globin
globin gene gene
● Alpha thalassemia is caused due to ● Beta thalassemia is controlled by a
defect in 2 closely linked genes single gene HBB on chromosome 11 of
HBA1 and HBA2 on chromosome each parent and occurs due to mutation
16 of each parent. of one or both the alleles of the gene.
© 2021, BYJU'S. All rights reserved
 Thalassemia
Alpha thalassemia
● It is caused by the defective formation of α-globin.
● It is controlled by two genes present on chromosome 16, HBA1 and
HBA2 with a total of four alleles.
● Persons with one defective allele are silent carriers while two defective
alleles produce α-thalassemia minor.

Beta thalassemia
● There is decreased synthesis of β-globin in this case.
● The defect is due to alleles of HBB gene present on chromosome 11.
● Persons with one defective allele suffer from thalassemia minor with
larger number of microcytic erythrocytes and lesser amount of
haemoglobin.
● Persons with both the defective alleles suffer from Cooley’s anaemia or
thalassemia major.

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 Thalassemia
Carrier x Carrier

T t T t T t

T TT Tt

t Tt tt
TT Tt Tt tt

Unaffected Carrier progeny Affected progeny

progeny TT (50%) Tt tt
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 Thalassemia
Carrier x Unaffected

T t T T T t

T TT Tt

TT Tt Tt TT T TT Tt

Unaffected Carrier progeny Unaffected

progeny TT (50%) Tt progeny TT
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 Thalassemia
Affected x Unaffected

t t T T t t

T Tt Tt

Tt Tt Tt Tt
T Tt Tt

Carrier progeny
Tt
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 Thalasemia
Affected x Carrier

t t T t t t

T Tt Tt

t tt tt
Tt Tt tt tt

Carrier progeny Affected progeny

Tt tt
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 Inheritance Pattern in Thalassemia
If both the parents are carriers:

Gen I

Gen II

Gen III

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 Abnormal forms of RBCs
● Thalassemia
○ A quantitative problem of synthesizing too few
globin molecules.
● Sickle cell anemia
○ A qualitative problem of synthesising an
incorrectly functioning globin.

Normal
red blood cell

Quantitative Thalassemia
problem red blood cell

Qualitative
Sickled
problem
red blood cell
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 Phenylketonuria(PKU)
● It is an autosomal recessive metabolic disorder resulting from lack
of an enzyme known as phenylalanine hydroxylase (PHL).
● PHL helps to convert phenylalanine into tyrosine.

PHL - Phenylalanine hydroxylase

PHL
Normal Phenylalanine Tyrosine

PHL
Diseased Phenylalanine Tyrosine

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 Phenylketonuria (PKU)
PHL
Phenylalanine Tyrosine

Accumulation of Phe Deficiency of Tyr

to toxic levels

● Phenylketonuria results in accumulation of phenylalanine to toxic levels

and deficiency of tyrosine.
● Tyrosine is required for synthesis of various neurotransmitters.
● Tyrosine deficiency results in reduced brain development and other
neurological conditions.
● Excess presence of Phe(Phenylalanine) in cerebrospinal fluid (CSF)
causes mental retardation, intellectual disability and mental disorders.

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 Phenylketonuria (PKU)
Symptoms
● Small sized head (microcephaly)

● Learning disability and delayed development

Microcephaly ● Neurological disorders

● Behavioural, emotional and social problems

● Fatigue

Normal sized head

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 Phenylketonuria(PKU)
Carrier x Carrier

Pp Pp

P p P p P p

P PP Pp

p Pp pp
PP Pp Pp pp

Unaffected Carrier Progeny Affected

progeny PP (50%) Pp progeny pp
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 Phenylketonuria (PKU)
Unaffected x Carrier

PP Pp
P P
P P P p
P PP PP

p Pp Pp
PP Pp PP Pp
Unaffected Carrier Unaffected Carrier
progeny progeny progeny progeny
PP Pp PP Pp
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 Phenylketonuria (PKU)
Unaffected x Affected

PP pp
p p
P P p p

P Pp Pp

P Pp Pp
Pp Pp Pp Pp

Carrier progeny
Pp
© 2021, BYJU'S. All rights reserved
 Inheritance Pattern in Phenylketonuria
If both the parents are carriers:

Gen I

Gen II

Gen III

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 Summary

● Pedigree analysis
○ It is the study of a particular trait that is inherited from one
generation to another.
○ It helps to understand the pattern of inheritance for a particular
trait, and also to know whether the trait is dominant or
recessive.

© 2021, BYJU'S. All rights reserved

 Summary
Understanding the symbols

Unaffected/Normal Unaffected/Normal Sex

male female unspecified Affected female Affected male Carrier female Carrier male

Carrier female Carrier male Deceased female and male Marriage

Consanguineous marriage Fraternal twins (non-identical) Identical twins

© 2021, BYJU'S. All rights reserved
 Summary
Haemophilia is an inherited genetic disorder that
Sex- linked Haemophilia impairs body’s ability to make clots.

Sex-linked recessive disorder due to defect in

Mendelian disorders

Colour blindness either red or green cone of eye resulting in failure

to discriminate between red and green colour.

Inherited red blood cell disorder in which there

Sickle cell anemia aren't enough healthy red blood cells to carry
oxygen throughout our body.
Autosomal

Thalassemia A rare inherited blood disorder resulting from

inadequate Hb synthesis.

Autosomal recessive metabolic disorder resulting

Phenylketonuria from lack of an enzyme phenylalanine hydroxylase
(PHL).
© 2021, BYJU'S. All rights reserved
 Classes Notes
Principles of Inheritance and Variation
Ploidy, Chromosomal Disorders
 Key Takeaways

Ploidy 1

Euploidy

Aneuploidy
2 Chromosomal disorders

Types of disorders

Summary
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 Chromosomal Aberrations

❖ Errors in replication can result from improper distribution of chromosomes

during cell division. This occurrence is called as non-disjunction of
chromosomes.
❖ This changes the ploidy of the cell.

Anaphase

Abnormal Cytokinesis Missing Extra

spindle chromosome chromosome
 Ploidy
It is the number of chromosomes or sets of chromosomes present in a cell.

A B
1 2 3 4 5
The ploidy of human body cell is diploidy.

C
6 7 8 9 10 11 12 Types of ploidy

D E
13 14 15 16 17 18
Euploidy Aneuploidy
F G
19 20 21 22 XY

Human karyotype – Male

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 Euploidy
❖ A single set of chromosomes in a cell is also known as basic set.
❖ Euploidy is a condition in which chromosomes in the cell are in
multiples.
❖ Based on how many sets of chromosomes are present, there are
different types of euploidy and it is denoted as n, 2n, 3n and so on.

Polyploidy 3n and more

Euploidy Diploidy 2n

Monoploidy n

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 Types of Euploidy
Monoploidy

❖ The condition in which the cell has a single set of chromosome.

❖ The cell or organism is called monoploid.
❖ Denoted as : n

Diploidy

❖ The condition in which the cell has two sets of chromosomes.

❖ The cell or organism is called diploid.
❖ Denoted as : 2n

Polyploidy

❖ The condition in which the cell has multiple sets of chromosomes.

❖ The cell or organism is called polyploid.
❖ Denoted as : 3n, 4n, etc.

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 Aneuploidy
❖ In the case of aneuploidy, there is addition or removal of
chromosomes and not a set of chromosome.
❖ Example - Klinefelter syndrome in human beings.

Hypoploidy-
46 – 1 = 45
removal of
chromosomes
chromosome(s)

Aneuploidy
Hyperploidy-
46 + 1 = 47
addition of
chromosomes
chromosome(s)

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 Types of Aneuploidy
Hypoploidy Hyperploidy
[removal of chromosome(s)] [addition of chromosome(s)]

No. of No. of
Type of Type of
chromosomes chromosomes
hypoploidy hyperploidy
removed added

Monosomy Trisomy
-1 +1
(2n – 1) (2n + 1)

Nullisomy Tetrasomy
-2 +2
(2n – 2) (2n + 2)

❖ If one chromosome is removed it is ❖ If one chromosome is added, then the

called monosomy. type of hyperploidy is trisomy.
❖ If two chromosomes are removed it is ❖ If two chromosomes are added, then the
called nullisomy. type of hyperploidy is tetrasomy.
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 Chromosomal Disorders

❖ Abnormal number of chromosomes in human cells

results in chromosomal disorders.

❖ Caused by either addition or removal of

chromosome(s).
Proper disjunction

❖ Can occur due to nondisjunction of chromosomes

(unable to split properly) during cell division.

Nondisjunction
❖ This error occurs during the anaphase of the cell
division.
Anaphase

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 Types of Chromosomal Disorders

Nullisomy- Monosomy
Type of Type of
removal of two removal of one
aneuploidy chromosomes (2n-2) aneuploidy chromosome (2n-1)

Total number of Total number of

44 45
chromosomes chromosomes

Human beings with

Turner’s syndrome,
Disorders nullisomy condition don’t Disorders Cri-du-chat syndrome
survive

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 Recall! Autosomes Vs Sex Chromosomes
❖ Out of the 46 chromosomes that
46 Chromosomes humans have, 44 are autosomes and
2 are allosomes or sex
chromosomes.
❖ In males, sex chromosomes are XY
and in females they are XX.
2 Allosomes/
44 Autosomes
sex chromosomes

XY XX
Male Female

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 Turner’s Syndrome
❖ Removal of one X chromosome from
the sex chromosomes
❖ Occurs in females Short stature
Characteristic facial
❖ Chromosome composition: 44A+XO features
Low hairline
Fold of skin
Constriction of aorta

1 2 3 4 5 Poor breast
Widely spaced development
nipples Elbow deformity

6 7 8 9 10 11 12 Rudimentary ovaries
gonadal streak
(underdeveloped
Small gonadal structures)
13 14 15 16 17 18 fingernails

Brown spots (nevi)

19 20 21 22 XO No menstruation

Turner’s syndrome karyotype

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 Cri-du-chat Syndrome

❖ Infant's cry is high pitched

❖ Sounds like a cat’s cry

5p- ❖ It caused due to the deletion of

p a part of the 5th chromosome.
❖ Since only a part of
chromosome is deleted and not
q the full chromosome, this type
of aneuploidy is called partial
monosomy.
Normal Defected 5p-syndrome =
Cri-du-chat syndrome
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 Down’s Syndrome

❖ Trisomy of 21st chromosome

❖ Occurs both in females and males

Trisomy- 1 2 3 4 5 6 7 8
Type of
Addition of one
aneuploidy chromosome (2n+1)

9 10 11 12 13 14 15 16
Total number of
47
chromosomes
or
17 18 19 20 21 22 XX XY

An extra chromosome in the 21st

chromosome results in Down’s syndrome
© 2021, BYJU'S. All rights reserved
 Down’s Syndrome
Growth failure

Flat back of head Broad flat face,

slanting eyes and
Abnormal ears short nose
Many "loops"
on fingertips Short and broad hands

Palm crease Small and

arched palate, big
Special skin wrinkled tongue,
ridge patterns dental anomalies

Congenital heart disease

Intestinal blockage
Enlarged colon
Abnormal pelvis
Big toes widely spaced

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 Edward’s Syndrome

Occiput, or back part of

❖ Trisomy of 18th chromosome Small the skull, is prominent
mouth,
❖ Occurs in both males and females Small jaw,
Short neck

1 2 3 4 5 Dysplastic, or
Shield chest, malformed ears
or short and
prominent
sternum,
6 7 8 9 10 11 12 and wide-set
nipples
Clenched hands
13 14 15 16 17 18 with overlapping
fingers
or
Flexed big toe,
19 20 21 22 XX XY prominent heels
© 2021, BYJU'S. All rights reserved
 Triple X Syndrome/Super Female

❖ Extra X chromosome in sex chromosomes

❖ Takes place only in females
Delayed motor
❖ Chromosomal composition: 44A+XXX
development

1 2 3 4 5 6 7 8 Delayed speech

Features

9 10 11 12 13 14 15 16 Low IQ

17 18 19 20 21 22 XXX Wide set eyes

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 Klinefelter’s Syndrome
Frontal baldness
❖ Extra X chromosome in sex chromosomes Tall stature absent

❖ Occurs only in males Slightly feminized

Poor beard
growth
physique
❖ Chromosomal composition: 44A+XXY Breast
development
(in 30% of cases)

1 2 3 4 5 6 7 8 Tendency to
lose
chest hair Small
testes

9 10 11 12 13 14 15 16 Female
type
pubic hair
pattern

17 18 19 20 21 22
XX
Y
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 Summary
Types of ploidy

Euploidy Aneuploidy

Monoploidy Diploidy Polyploidy Hypoploidy Hyperploidy

(x) (2x) (3x, 4x, 5x, 6x, etc.)

Monosomy Nullisomy Trisomy Tetrasomy

(2n-1) (2n-2) (2n+1) (2n+2)

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 Summary

Turner’s syndrome Down’s syndrome

Affected female lacks one X Affected female has an extra X
chromosome chromosome

Cri-du-chat syndrome Chromosomal Edward’s syndrome

Affected infants have high
disorders Trisomy of 18th chromosome
pitched cry

Triple X syndrome Klinefelter’s syndrome

Affected female has an extra X Affected male has an extra X
chromosome chromosome
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