Observing Patterns

in Inherited Traits
Chapter 13

Terms and Concepts

Gene

Heritable unit of information about traits

One gene generally codes for one protein
In a diploid cell there are pairs of genes

One of the pair on each of the homologous

chromosomes

Locus

Location of a gene on the chromosome

Terms and Concepts

Allele

Different molecular forms or traits of the

same gene
Arise by mutation

A permanent change in a gene and in the

information it carries

Diploid cells have two alleles for each

gene

Terms and Concepts

Types of alleles

Dominant

Its trait is always expressed

Masks the effect of a recessive allele
Represented with a capital letter in inheritance problems (A)

Recessive

Expressed only when paired with another identical recessive

allele
Its trait is masked by dominant alleles
Represented with a lower case letter in inheritance problems
(a)

Terms and Concepts

Combinations of alleles

Homozygous condition

Homologs carry the same allele

A pair of identical alleles belong to a true-breeding lineage
Individuals can be either homozygous recessive (aa) or
homozygous dominant (AA)

Heterozygous condition

Homologs carry different alleles

Individuals are referred to as heterozygous (Aa) or hybrids
(result of a cross between two different true-breeding
individuals)

Terms and Concepts

Gene expression

Process by which a genes information is

converted to a structural or functional
part of a cell
Transcription of DNA to mRNA
Translation of RNA to protein

Determines traits

Terms and Concepts

Genotype

Particular alleles that an individual carries

Examples: AA, Aa, aa

Phenotype

Refers to an individuals traits

Examples: color, shape, size, texture, etc.

Terms and Concepts

Genetic crosses

Two individuals are crossed and the

resulting offspring are examined to
determine inheritance patterns
P stands for the parents
F1 stands for the first-generation offspring of
crossed P individuals
F2 stands for the second-generation
offspring of intercrossed F1 individuals

Questions

Gene
An individuals traits
Locus
Heterozygous
Dominant allele
Second generation offspring
True-breeding Homozygous
Hybrids An individuals genes
Genotype
A trait that is always expressed
Phenotype
Heritable unit of information
F2 generation Location of a gene

Genetic Crosses

The following slides will present a

genetic cross demonstrating

the use of the above terminology

and the use of punnett squares

Genetic Crosses

Whether a person has attached or

detached earlobes depends on a
single gene with two alleles (We can
name the gene with a letter e)
Dominant allele is detached ear lobes

Referred to as E (capital for dominant)

Recessive allele is attached ear lobes

Referred to as e (lower case for recessive)

Genetic Crosses

Each individual inherits one allele from each parent

Depending on what combination of alleles are

inherited will determine the genotype and
phenotype of the individual

Inherit two dominant alleles

Inherit two recessive alleles

Genotype = EE or homozygous dominant

Phenotype = detached earlobes
Genotype = ee or homozygous recessive
Phenotype = attached earlobes

Inherit one dominant allele and one recessive allele

Genotoype = Ee or heterozygous
Phenotype = detached earlobes

The dominant allele will always mask the recessive alleles trait

Genetic Crosses

Punnett squares can be used to determine

the probability of the genotypes and
phenotypes of offspring of any given cross
such as the following

If we crossed a homozygous dominant dad

with a homozygous recessive mom, what
would the offspring genotype(s) and
phenotype(s) be?

Genetic Crosses

First you need to determine the

genotype of the parents

Dad = homozygous dominant = EE

Mom = homozygous recessive = ee

Genetic Crosses

Second, determine what each parents gametes

will be

Based on what we know about meiosis we can

determine what allele the gametes will carry (see
figure 10.5)

Remember that during meiosis homologous pairs are

separated (anaphase I). One of the two alleles is on one of
the homologs, the other is on the other homolog. Therefore,
during meiosis one E will segregate into one gamete, while
the other E will segregate into the other gamete

Dads gametes will be E and E

Moms gametes will be e and e

Genetic Crosses

Third, place the gametes in a punnett

square

Dads go vertically in the first column

Moms go horizontally across the top

e
E
E

Genetic Crosses

Fourth, determine what the possible

outcomes are if either of dads gametes
fuses with either of moms eggs
e
E
E

e
Ee Ee
Ee Ee

Genetic Crosses

Fifth, determine the probability of the

genotypes and phenotypes

Genotype possibilities are

EE, Ee, or ee
Count up how many out of four of each
combination are in the punnett square

EE : Ee
: ee
Answer
0 : 4 : 0

Genetic Crosses

Fifth, determine the probability of the

genotypes and phenotypes

Phenotype possibilities are

Detached or Attached
Count up how many out of the four of each
trait are in the punnett square

Detached
Answer: Attached
4 : 0

Genetic Crosses

Punnett Square Practice

Cross a heterozygous dad with a homozygous

dominant mom

Cross a heterozygous dad with a heterozygous

mom

Ee X EE

Ee X Ee

Cross a homozygous recessive dad with a

heterozygous mom

ee x Ee

Gregor Mendel

Using pea plants Gregor Mendel

determined inheritance patterns

Pea plants are self-fertilizing and so

develop true-breeding varieties
(homozygous)
Mendel could open a floral bud of a truebreeding plant and snip out its anthers
(contains pollen grains). The buds can
then be brushed with pollen from a
different true-breeding plant.
Following observable differences between
plants Mendel predicted that he would be
able to follow certain traits and see if
there were patterns in its inheritance.

Fig. 10-3, p.154

Gregor Mendel

Theory of Segregation

Diploid cells have pairs of genes, on pairs

of homologous chromosomes
The two genes of each pair are separated
from each other during meiosis, so they
end up in different gametes
Mendel used monohybrid crosses to
demonstrate segregation

Gregor Mendel: Monohybrid

Cross

Pea flower color

Cross 1

True-breeding purple flowering plants were crossed

with true-breeding white flowering plants (these are
the parental generation, P)
The offspring or F1 generation were all purple flowering

Cross 2

The F1 generation were allowed to self-fertilize

The offspring or F2 generation had a ratio of 3 purple
flowering plants to 1 white flowering plant

Gregor Mendel: Monohybrid

Cross

Pea flower color

Mendel was able to infer that
Both parents must have two units of
information
Each parent transferred one of their units
of information to the offspring
The purple color dominated the white color
The recessive white color shows up in of
the F2 generation

Homozygous
dominant
parent

Homozygous
recessive
parent

(chromosome
s duplicated
before
meiosis)
meiosis
I

meiosis II

(gametes)

(gametes)
fertilization
produces
heterozygo
us offspring

Fig. 10-5, p.156

Gregor Mendel: Monohybrid

Cross

Pea flower color

Purple is dominant = A
White is recessive = a
Genotypes

True-breeding purple genotype = AA

True-breeding white genotype = aa

Punnett square for cross 1

a
A
A

a
Aa Aa
Aa Aa

Fig. 10-7b, p.157

Gregor Mendel: Monohybrid

Cross

Pea flower color

F1 are allowed to self-fertilize
Punnett square for cross 2

A
a

A
AA
Aa

a
Aa
aa

Fig. 10-7c, p.157

Fig. 10-6, p.156

Gregor Mendel

Test cross

A method of determining genotype

To determine the genotype of the F 1 purple-flowering
plants (could be AA or Aa) Mendel could cross them with
true-breeding white-flowered plants (aa)
If the F1 is AA, then all of the flowers would be purple
If the F1 is Aa, then half of the flowers would be
purple and half white
Try the crosses on a punnett square

Gregor Mendel

Theory of Independent Assortment

As meiosis ends, genes on pairs of

homologous chromosomes have been
sorted out for distribution into one
gamete or another, independently of
gene pairs on other chromosomes
This is due to random alignment during
meiosis

Gregor Mendel

Theory of Independent Assortment

Mendel used dihybrid crosses to explain

how two pairs of genes are sorted into
gametes independently

The following slides will demonstrate the

type of dihybrid crosses used

Gregor Mendel: Dihybrid

Cross

Pea flower color AND plant height

Cross 1

True-breeding purple flowering tall plants were crossed

with true-breeding white flowering dwarf plants (these are
the parental generation, P)
The offspring of F1 generation were all purple flowering
tall
Mendels question was whether purple flowering would
always be linked to tall or whether purple could go with
dwarf and white with tall. Looking at the F 2 generation
from cross 2 answered his question.

One of two possible

alignments
a Chromosome
alignments at
metaphase I:

b The resulting
alignments at
metaphase II:

B
c Possible
combinations
of alleles in
gametes:

The only other possible alignm

Aa

Bb

bB

AB

B b

ab

Ab

b B

aB

Fig. 10-8, p.158

Gregor Mendel: Dihybrid

Cross

Pea flower color AND plant height

Cross 2

The F1 generation were allowed to self-fertilize

The offspring or F2 generation had a ratio of

9 purple flowering tall plants

3 purple flowering dwarf plants
3 white flowering tall plants
1 white flowering dwarf plant

Gregor Mendel: Dihybrid

Cross

Pea flower color AND plant height

Mendel was able to infer that
Purple was not linked to tall and white was
not linked to dwarf
The two different genes did in fact sort
independently

Gregor Mendel: Dihybrid

Cross

Pea flower color AND plant height

Purple = A
Tall = B
Genotypes

and
and

white = a
dwarf = b

True-breeding purple tall genotype = AABB

True-breeding white dwarf genotype = aabb

Punnett square for cross 1

ab
AB
AB

ab
AaBb
AaBb

AaBb
AaBb

Gregor Mendel: Dihybrid

Cross

Pea flower color AND height

F1 are allowed to self-fertilize

Possible gametes for AaBb are

AB, Ab, aB, ab

Gregor Mendel: Dihybrid

Cross

Pea flower color AND plant height

Punnett square for cross 2

AB Ab

aB

ab

AB

AABB

AABb

AaBB

AaBb

Ab

AABb

AAbb

AaBb

Aabb

aB

AaBB

AaBb

aaBB

aaBb

ab

AaBb

AabbaaBbaabb

Fig. 10-9, p.159

Questions

T or F: The Theory of Segregation states that the two genes of

each pair stay together during meiosis
What type of cross was used to show Mendels Theory of
Segregation?
What is a Punnett Square?
What genotype and phenotype ratios are seen in the F2
generation?
T or F: The Theory of Independent Assortment states that gene
pairs sort independently
What type of cross was used to show Mendels Theory of
Independent Assortment?
What genotype and phenotype ratios are seen in the F2
generation?

Beyond Simple Dominance

Mendel studied traits that have clear

cut dominant and recessive forms
Some genes can have alleles that are
codominant or incompletely
dominant

Beyond Simple Dominance

Codominance

Non-identical alleles are both fully expressed even in

heterozygotes
Blood type

IA and IB alleles are both dominant

They are always expressed

i is recessive
Genotype
Phenotype
IAIA and IAi
Type A blood
IBIB and IBi
Type B blood
IAIB
Type AB blood (codominant, they are both expressed)
ii
Type O blood

Fig. 10-10, p.160

Beyond Simple Dominance

Incomplete dominance

One allele isnt fully dominant over the

other allele, so the heterozygotes
phenotype is somewhere between the
two homozygotes
Snapdragon flower color
Red flowers = RR
White flowers = rr
Heterozygotes , Rr are pink

Fig. 10-11, p.160

Beyond Simple Dominance

Epistasis

Some traits are the results of interactions of two

or more gene pairs
Labrador coat color

Gene encoding pigment

Gene encoding deposition of pigment

black is dominant to brown

Dominant allele promotes deposition of pigment
Recessive allele reduces deposition

The two genes work together to determine how much

of what color pigment ends up in the coat

EB

Eb

eB

eb

EB

EEBB
black

EEBb
black

EeBB
black

EeBb
black

Eb

EEBb
black

EEbb
chocolate

EeBb
black

Eebb
chocolate

eB

EeBB
black

EeBb
black

eeBB
yellow

eeBb
yellow

eb

EeBb
black

Eebb
chocolate

eeBb
yellow

eebb
yellow

Fig. 10-13, p.161

Fig. 10-12, p.161

Beyond Simple Dominance

Pleiotropy

One gene can influence two or more

traits
Marfan syndrome

A mutated form of the fibrillin gene affects

the formation of connective tissues, thus its
affects are seen in several areas of the body

Linkage Groups

Some alleles tend to be inherited as a group

Mendels theory of independent assortment only

works for genes located on different
chromosomes
If genes are located on the same chromosome,
then they are generally linked
In some cases crossing over during meiosis will
separate linked genes depending primarily on
how close the two genes are on the chromosome

p.162b

Fig. 10-15, p.162

Genes and the Environment

Some genes and can be influenced

by the environment

Temperature affects coat color on

Himalayan rabbits

Cooler body parts are dark while the main

body mass is warmer and creating a lighter
coat color

Fig. 10-16, p.163

Fig. 10-17, p.163

Complex Variations in Traits

Individuals of populations can show

continuous variation in a trait if there
are multiple genes and
environmental factors that influence
a trait

Height
Eye color
Skin color

p.164

Fig. 10-19a, p.164

Fig. 10-19b, p.164

Fig. 10-19c, p.164

Summary

Terms and Concepts

Genetic Crosses
Mendel

Segregation
Independent Assortment

Beyond simple dominance and other

variations of inheritance patterns