CHAPTER 4

PRINCIPLES OF INHERITANCE AND VARIATION

PRINCIPLES OF INHERITANCE AND ARIATION
Genetics: deals with the inheritance, as well as the variation of characters from parents to offsprings.
Inheritance: is the process by which characters are passed on from parent to progeny. Variation: is the degree by
which progeny differ from their parents.
MENDEL'S LAWS OF INHERITANCE:
Gregor Mendel. Conducted hybridization experiments on garden peas for seven years (1856 1863) and proposed
laws of inheritance.
Mendel conducted artificial pollination/cross pollination experiments using several true-breeding pea lines.
Atrue breeding line is one that, having undergone continuous self-pollination for several generations.
Mendel selected 14 true-breeding peas' plant varieties, as pair's which were similar except for one character with
contrasting traits.

True breeds selected by Mendel

Traits Shape Colour Colour Shape Plant Position Flower

of seeds of seeds of pods of pods height of flowers colour
Dominant Round Green
Axial Purple
Yellow Full Tall
trait

Recessive Wrinkled Green Yellow Flat, Short White

trait constricted

Terminal

Seven pairs of contrasting traits in pea plant

INHERITANCE OF ONE GENE: (Monohybrid cross)
Mendel crossed tall and dwarf pea plants to study the inheritance of onc genc.
He collected the seeds produced as a result of this cross and grew them to generate plants of the
first hybrid generation. This generation is called filial progeny or the Ft.
Mendel observed that all the F1 progeny plants ere tall, like one of its parents; none were dwarf.

He made similar observations for the other pairs of traits he found that the Fi always resembled
either one of the parents, and that the trait of the other parent was not seen in them.
The tall and dwarf traits were identical to their parental type and did not show any blending, that is
all the offsprings were either tall or dwarf, none were of in between height.
Similar results were obtained with the other traits that he studied: only one of the parental traits was
expressed in the F1generation while at the F2 stage both the traits were expressed in the proportion
of 3:1.
The contrasting traits did not show any blending at either F or Fz stage. Mendel's proposition:
Mendel proposed that something was being stably passed down, unchanged, from parent to
offspring through the gametes, over successive generations. He called these things as factors'.
Now a day we call them as genes.
Gene is therefore are the units of inheritance.
Genes which codes of a pair of contrasting traits are known as alleles, i.e. they are slightly different
forms of the same gene.

Mendel then self- pollinated the tall F1 plants and to his surprise found that in the F2 generation
some of the offsprings were dwarf tho aharaato that wae not soan in the F1 generation was now
expressed.
The proportion of pl tnedyart 3/4h of the Fz plants
were tall. Page 23 228
 He made similar observations for the other pairs of traits - he found that the F1 always resembled
either one of the parents, and that the trait of the other parent was not seen in them.
The talland dwarf traits were identical to their parental type and did not show any blending, that is
all the offsprings were either tall or dwarf, none were of in betwcen height.
Similar results were obtained with the other traits that he studied: only one of the parental traits was
expressed in the F1generation while at the F2 stage both the traits were expressed in the proportion
of 3: 1.
The contrasting traits did not show any blending at either Fior F2 stage. Mendel's proposition:
Mendel proposed that something was being stably passed down, unchanged, from parent to
offspring through the gametes, over successive generations. He called these things as factors'.
Now a day we call them as genes.
Gene is therefore are the units of inheritance.
Genes which codes of a pair of contrasting traits are known as alleles, i.e. they are slightly different
forms of the same gene.

Mendel then self- pollinated the tall F1 plants and to his surprise found that in the Fz generation
some of the offsprings were dwarf; the character that was not seen in the Figeneration was now
expressed.
The proportion of plants that were dwarf was 1/4th of the Fz plants while 3/4th of the Fz plants
were tall.

Law of Dominance:
Characters are controlled by diserete units called factors.
Factors occur in pairs.
In a dissimilar pair of factors one member of the pair dominates (dominant) the other (recessive).
P generation Genetic makeup (alleles)
Purple flowers White flowers
PP

Gametes All P)

F, generation
(hybrids)

All Pp
Alleles
Gametes
segregate
Fertilization
F2 generation Spem from F, plant
P P

Phenotypic ratio
3 purple :1 white
Eggs
from F,
Genotypic ratio plant
1 PP:2 Pp:1 pp (P PP
 CHAPTER- 5: PRINCIPLES OF INHERTANCE AND VARIATION
(CONCEPT MAP)

TEST CROss

Law of dom inance

MONOHY BRID
Law of segregation
Law Of Inde pe ndent Assortment
cODOMINANCE

Mendel's law of inheritance

INCOMPLETE
DOMINANCE

POINT MUTATION
ONE GENE

MUTATION PRINCIPLES OF
INHERITANCE
INHERITANCE
CHROMOsOMAL
ABERRATION TWO GENES

SEX DETERMINATION
GE NETIC DISORDERS
DIHYRIDCROSS

XO ZW
Female
XX XY
Male Male Female
Female Male
Eg. Grassho pper Eg. Man Eg. Bird

MENDELIAN CHROMosOMAL

Haemophilia DOWN'S SYNDROME

Sickle-cell anaemia KINEFLTER'S SYNDROME
Pherylketo nuria TURNER'S SYNDROME
 Terminologies used in Genetics
Genetic Definition Example
Terms

Allele Different forms of a gene, Different alleles produce different hair

which produce variations in a colors- brown, blond, red, black, etc.
genetically inherited trait.
Genes Genes are parts of DNA and carry Genes contain blue-print for each individual
hereditary information passed for her or his specific traits.
from parents to children.
Dominant Dominant version (allele) of a When a child inherits dominant brown-hair
gene shows its specific trait even
gene form(allele) from dad, the child will
if only one parent passed the have brown hair.
gene to the child.
Recessive Recessive gene shows its When a child inherits recessive blue-eye gene
specific trait when both form (allele) from both mom and dad, the
parents pass the gene to the child will have blue eyes.
child.
Homozygous Same allelic pairs of genes. Inheriting the same blue eye gene
One from mother and other form from both parents result in a
from father. homozygous gene.
Heterozygous Two different forms of a gene Inheriting different eye color gene forms from
one from mom and the other from mother and father result in a heterozygous
dad are different. gene.
Genotype Internal heredity Blue eye and brown eye have different
information that contain genotypes-one is coded for blue and the
genetic code. other for brown.
Phenotype |Outwardly expressed traits or Either having or not having a
characteristics. widow's peak are phenotypes.
A simple genetic rule where a Some genetic traits follow Mendelian
Mendelian gene only comes in dominant or Inheritance, while other genetic traits follow
Inheritance recessive forms. different inheritance patterns or rules.

Law of Segregation:
The alleles do not show any blending and that both the characters are recovered as such in the F2
generation though one of these is not seen at the F1 stage.
The parents contain two alleles during gamete formation; the factors or alleles of apair segregate
or separate from each other such that a gamete receives only one of the two factors.
Homozygous parent produces all gametes that are similar i.e contain same type of allele.
Hctcrozygous parents' produces two kinds of gamctes cach having one allele with equal
proportion.

Incomplete dominance:
" When a cross between two pure breed is done for one contrasting character, the F hybrid
phenotype does not resemble either of the two parents and was in between the two, called
incomplete dominance.
Inheritance of flower color in the dog flower (snapdragon or Antirrhinum sp.)ls a good example
of incomplete dominance?
 Fz generation phenotypic ratio is 1:2:1 instead of 3:1l as Mendelian monohybrid cross. O Genotypic
ratio of Fz generation is 1:2:1.

Pgeneration
Red White
RR

Gameles

Fi generation
Pink
INCOMPLETE DOMINANCE
5 Biology

Co- dominance:
F1resembled either of the two parents (complete dominance).
Fi offspring was in-between of two parents (incomplete dominance).
Fi generation resembles both parents (co-dominance).
Best example of co-dominance is the ABO blood grouping in human.
ABO blood group is controlled by the gene I.
The plasma membrane of the RBC has sugar polymers (antigen) that protrude from its surface and the
kind of sugar is controlled by the gene-/.
The gene Ihas three alleles I4B and i.
The alleles I4 and J8 produce a slightly different form of sugar while allele i doesn't produce any
sugar.
Each person possesses any two of the three I gene alleles.
14 and JB are completely dominant over i.
When 4, and / present together they both express their own types of sugar;this because of co
dominance. Hence red blood cells have both A and B type sugars.
Genotype Bloodtype

AB

B
Multiple Allelism:
Example of ABO blood grouping produces a good example of multiple alleles. " There are more than
two alleles. i.e. three allele governing the same character in a population.

A single gene product may produce more than one effect:

Eg. Starch synthesis in pea seeds is controlled by one gene. It has two alleles B and b. Starch is synthesized
effectively by BB homozygote and therefore, large starch grains are produced. The 'bb' homozygous has less
efficiency hence produce smaller grains. After maturation of the seeds, BB seeds are round and the bb seeds are
wrinkle. Heterozygous (Bb) produce round seed and B seems to be dominant allele, but the starch grains
produced are of intermediate size. If starch grain size is considered as the phenotype, then from this angle the alleles
show incomplete dominance.
INIERITANCE OF TWO GENES: (Dibybrid Cross)

Law of independent Assortment:

When two characters (dihybrid) are combined in a hybrid, segregation of onc pair of traits is independent of
the other pair of traits.

CHROMOSOMAL THEORY OF INHERITANCE:

Proposed by Walter Sutton and Theodore Bovery in 1902.

The behavior of chromosomcs was parallel to the behavior of genes and used chromosome movement to
explain Mendel's laws.
Sutton united the knowledge of chromosomal segregation with Mendelian principles and called it the
chromosomal theory of inheritance.
o Chromosome and genes are present pairs in diploid cells. o Homologous chromosomes separate
during gamete formation (meiosis) o Fertilization restores the chromosome number to diploid condition.
o The chromosomal theory of inheritance claims that, it is the chromosomes that segregate and assort
independently.

Linkage: Physical association of genes on a chromosome.

Recombination: The generation of non-parental gene combinations.
POLYGENIC INHERITANCE:
The inheritance one trait by three or more genes are called polygenic inheritance. In a polygenic trait the
phenotype reflects the contribution of each allele i.e. the effect of each allele is additive.
Eg. Human skin colour.

Eg: Inheritance of Human skin colour

29

(Darkest) AABBCC X aabbcc (Fairest) (P)

AaBbCc (Intermediate) (F1)

AaBbCe AaBbCe
 PLEIOTROPY:
Asingle gene can exhibit multiple phenotypic expression, such gene is called pleiotropic gene.
The mechanism of pleiotropy in most cases is the effect of a gene on metabolic pathways which
contributes towards different phenotypes.
Phenylketonuria a disease in human is an example of pleiotropy.
This disease is caused due to mutation in the gene that code for the enzyme phenyl alanine
hydroxylase.
Phenotypic expression characterized by: Mental retardation, reduction in hairs and reduction in skin
pigmentation.
SEX DETERMINATION:
Sex-determination of grass hopper:
Sex-determination in grasshopper is XX-XO type.
All egg bears one 'X chromosome along with autosomes.
Some sperms (50%) bear's one 'X chromosome and 50% do not.
Egg fertilizcd with sperm (with 'X* chromosome) became female (22+XX).
Egg fertilized with sperm (without 'X chromosome) became male (22 +X0)

30

Sex determination in Human beings (XX-XY type):

Bothe male and female has same number of chromosomes.
Female have autosomes and a pair of X chromosomes. (AA+ XX)
Male have autosomes and one large X' chromosome and one very small 'Y-chromosomes. (AA+XY)
This is called male heterogammety and female homogamety.

Parents: Father Mother

XY XX
Sperms Ova
Gametes:

Progeny: XX XX XY

Daughters S0% Sons 50%

Sex determination in birds:

Female birds have two different sex chromosomes designated as 7. and W.
Male birds have two similar sex chromosomes and called ZZ.
Such type of sex determination is called female heterogammety and male homogamety.
 Sex determination in Honey bee:
Sex determination in honey bee based on the number of sets of chromosomes an individual receives.
An offspring formed from the fertilization of a sperm and an egg developed into either queen (female)
or worker (female).
An unfertilized egg develops as a male (drone), by means of parthenogenesis.
The male have half the number of chromosome than that of female.
The female are diploid having 32 chromosomes and males are haploid i.e. having l6 numbers of
chromosomes.
*
This is called haplodiploid sex determination system.
Male produce sperms by mitosis, they don not have father and thus cannot have sons, but have
grandsons.

31

Sex Determination in HoneV Bee

16 32)

16 16 16

32 16

Pedigree Analysis:
Analysis of traits in several of generations of a family is called the pedigree analysis.
In the pedigree analysis the inheritance of a particular trait is represented in the family tree over
generations.

GENETICDISORDERS:

Hemophilia:
In this disease a single protein that is a part of the cascade of proteins involved in the clotting of blood is
affected. Due to this in an affected individual a simple cut will result in non-stop bleeding.
Sex linkcd recessive discase.
* The diseases transmitted from unaffected carrier female to some of the male progeny.
Female becoming hemophilic is extremely rare because mother of such a female at least carrier and the
father should be hemophilic.
Affected transmits the disease only to the son not to the daughter. * Daughter can receive the disease
from both mother and father.
Sickle cell anaemia:
This is an autosomes linked recessive trait.
The defect is caused due to substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of
the beta globin chain of the haemoglobin molecule.
Substitution of amino acid takes place due to the single base substitution at the sixth codon of the beta
globin gene from GAG to GUG.

32

Transmitted from parents to the offspring when both the parents are carrier for the gene (heteroZygous).
This disease is controlled by single pair of allele, HbA, and HbS.
There are three possible genotypes (HbA HbA, HbA HbS, and HbSHbS.
Only homozygous individuals for HbS (HbS HbS) show the diseased phenotype.
Heterozygous (HbA HbS) individuals appear unaffected but they are carrier of the disease as there is 50
percent probability of transmission of the mutant gene to the progeny.

GAG
Normal Hb (Agene..CTc. GTG
Sickle-cell Hb(S) gene .CAC

mRNA G¢G mRNA GÜG

3 4 6 3 4 5 6
HbA peptide HbS peptide

Phenylketonuria:
Autosomal recessive trait.
Inborn error of metabolism.
The affected individual lack one enzyme called phenyl alanine hydroxylase that converts the amino acid
phenyl alanine to tyrosine.
In the absence of the enzyme phenyl alanine accumulated and converted into phenylpyruvic acid and
other derivatives.
Accumulation of these results in mental retardation.
These derivatives excreted through kidney.
Thalasemia
Autosomal recessive blood disorder.
Reduce synthesis of haemoglobin.
Abnormal hacmoglobin causing anemia.
Alpha- thalassemia is caused due to mutation in chromosome number l6: HbAI and HbA2 genes of each
parent.
" Beta- thalasemia is caused due to mutation in chromosome number l1: HbB gene of eachparent.
Chromosomal disorders:
* Caused due to absence or excess or abnormal arrangement of one or more chromosome.
Failure of segregation of chromatids during cell division cycle results in the gain or loss of
chromosome(s), called Aneuploidy.
Failure of cytokinesis after telophase stage of cell division results in an increase in a whole set of
chromosome in an organism and this phenomenon is called polyploidy.
Trisomy: additional copy of a chromosome may be included in an individual (2n+1).
Monosomy: an individual may lack one of any one pair of chromosomes (2n-1) Down
syndrome:
Caused due to presence of an additional copy of the chromosome number 21 (trisomy of 21).
* This disorder was first described by Langdon Down (1866). o Short stature with small round head.
Furrowed tongue
o Partially opened mouth o Palm is broad with characteristic palm crease.
o Physical, psychomotor and mental development is retarded.
Klinefelter's syndrome:
* Caused due to the presence of an additional copy of X-chromosome resulting into a karyotype of 47,
(44+XXY).
o Overall masculine development. o Also develop feminine character (development of breast i.e.
Gynaccomastia) o Individuals are sterile.
Turner's syndrome:
* Caused due to the absence of one of the X- chromosomes ie. 45 (44 + X0) Such females are
sterile as ovaries are rudimentary. * Lack of other secondary sexual characters.

(2) GENETIC DISORDERs

MENDELUAN DISORDERS CHROMOSOMNAL

DSORDE

Se lnked Autosome Autosomal

neupkoidy Polyplo idy
nkee dominant
Haemop ha reces
The ganor o of Anveae in whole set of
Myotorc
a chromosomnes) chromosome
Colou
dystrophy
Sickle cell
anenia
Monosoy Trisomy
Phenyeton
Tuners Down
syndrome

Trisomy 21
me wh x

delects in the
syn thess of

Deta Delta