Chapter 3

Inheritance and Variation

 Heredity /Inheritance Variation

• The transmission of genetic information from one

generation to another generation is known as heredity
or inheritance.

• Differences or dissimilarities among the generations.

• Gregor Mendel (1822), Father of Genetics.

Mendel studied seven traits in garden pea plant.
Pisum sativum
 Mendel studied seven traits in garden pea plant.
Pisum sativum
Height Flower Fruit Seed

Colour Position Colour Shape Colour Shape

Dominant Tall Purple Axial Green Inflated Yellow Round

Recessive Dwarf White Terminal Yellow Constricted Green Wrinkled

Reasons for Mendel’s success
Pea plant is an annual, naturally self- pollinating plant with
several pairs of contrasting characters.
Experiments were carefully planned and involved large
sample.
Mendel used pure plants and only one character at a time.
Contrasting characters can be easily recognized.
Each character - single factor - separate chromosomes.
His results were analysed and recorded carefully in ratios.
 Genetic terminology
Character Heterozygous
Trait Monohybrid
Factor F1 generation
Gene F2 generation
Alleles Homologous chromosomes
Dominant Back cross
Recessive Test cross
Phenotype Phenotypic ratio
Genotype Genotypic ratio
Homozygous Checker board
 Genetic terminology
Trait
Character Inherited character
Specific feature and its variation
Eg. Height Eg. Tall or Dwarf

Factor
Unit of
heredity.
 Genetic terminology
Gene Alleles
Segment of DNA Two or more alternative
responsible for inheritance forms of a gene which
& expression. occupies the same locus.

Dominant Recessive
Allele that express even Allele that is not expressed in
in the presence of the presence of alternate allele.
alternate allele. Express only with identical
Allele that express in F1. allele.
 Genetic terminology
Phenotype Genotype
The external appearance Genetic constitution of an
of an organism for any organism for a trait.
trait. TT or tt or Tt
Tall & Dwarf

Homozygous Heterozygous
An organism possessing An organism possessing
Identical alleles for a trait. contrasting alleles for a trait.
Tall TT, Dwarf tt F1 Hybrids, Tt
 Genetic terminology
Monohybrid Dihybrid
Hybrid differing in a Hybrid differing in two pairs
single contrasting character. of contrasting characters.
Plant with Tt for height RrYy for shape & colour

F1/ First filial F2/ Second filial

Generation Generation
All offspring produced Second generation
from a pure parental cross produced
by selfing of F1
 Genetic terminology
Homologous Chromosomes
Morphologically, genetically
and structurally identical
chromosomes present in
a diploid cell.

Test cross
Back cross Cross of F1 with
Cross of F1 with any Homozygous recessive
of the parents. parent.
 Genetic terminology

Phenotypic ratio:
Monohybrid
Ratio of offsprings according
to their physical appearance. 3 Tall : 1 Dwarf

Genotypic ratio:
Ratio of the offspring according 1 TT : 2 Tt : 1 tt
to their genetic make up.
Monohybrid cross

T t T t

3:1
Dihybrid cross
 Mendel’s laws of inheritance
Law of dominance.
Law of segregation (Law of purity of gametes).
Law of Independent Assortment.

Law of dominance
When two homozygous individuals with one or more pairs of
contrasting characters are crossed the alleles that appear in
F1 are dominant and those which do not appear in F1 are
recessive.
 Mendel’s laws of inheritance
Law of segregation (Law of purity of gametes)
When hybrid (F1) forms gametes, the alleles segregate from each
other and enter in different gametes. So the gametes formed
are always pure.

Law of Independent Assortment

When hybrid having two or more pairs of contrasting characters
forms gametes, the alleles in each pair segregate independently
of the other pair.
Test cross
 Test cross significance
• To find out the unknown genotype of an organism
with dominant expression.
• To introduce useful recessive traits in an organism.
• Helpful for plant breeders.
Mendel’s conclusions:

One trait - One gene - Two alleles

Interactions among two alleles show one is

always dominant and the other is recessive.

Factors (genes) present on different

chromosomes assort independently.
 Deviations from Mendel’s findings: Neo-Mendelism

Intragenic
interactions

Intergenic
interactions
 Incomplete dominance
• Incomplete dominance is a deviation of Mendel’s laws of
dominance.
• Neither of the alleles of a gene shows complete dominance over
other.
• Both the alleles express partially in hybrids.
• There is an intermediate expression in F1.

Eg: Flower colour in Mirabilis jalapa.

If a red-flowered (RR) plant is crossed with a white-flowered (rr)
plant, then F1 offsprings have pink (Rr) flowers.
If a red-flowered (RR) plant is crossed with a white-flowered (rr)
plant, then F1 offsprings have pink (Rr) flowers.
 Co-dominance
Co-dominance is the condition
in which both the alleles are
fully and equally expressed.

i.e. Independent expression of

both the genes.

In F1 new phenotype is present.

Here no gene is dominant or

recessive to the other.

Thus in co-dominance both

alleles are expressed.

Eg: Coat colour in cattle.

 Multiple alleles
More than two alleles for a character in a
population, present on the same locus.
Mutation is the reason for the same.
Eg: Drosophila wing structure,
Blood group in human beings.

Human blood group is controlled by the gene I.

It has three alleles: IA, IB, and i.
 Blood group
Phenotype Genotype
(Blood type)
Type A IAIA or IAi
Type B B
II B or B
Ii
Type AB IA IB
Type O ii
 Pleiotropy
Single gene, two or more expression (phenotypes)
Ratio is 1:2 instead of 3:1
Lethal(dies) in homozygous condition.
Eg: sickle cell anaemia
Normal gene HbA Diseased gene HbS

Hbs gene have two different expression:

HbSHbS is lethal HbAHbS is carrier

Pleiotropy
sickle cell anaemia
Epistatic interactions or additive effect
or Polygenic inheritance (many genes single character)
Phenotypic expression
of a character is
controlled by the
number of dominant
or recessive genes
present in the
organism.
Eg. Human skin colour
controlled by 3 pairs of
genes - AABBCC.
Chromosomal theory of inheritance
Walter Sutton & Theodor Boveri
• Chromosomes are present in pairs in somatic cells.
• During gamete formation homologous chromosomes
pair, segregate and assort independently.
• Each gamete contains only one chromosome from a pair.
• The fusion of haploid male and female gametes restores
the diploid number of chromosomes of a species.
Chromosomes
• The size of chromosome varies from species to species.
Chromosomes are visible during cell division.

• They are capable of self-replication and play vital role in

heredity, mutation, variation and evolutionary
development of eukaryotic species.

• Chemically eukaryotic chromosomes are made of DNA,

histone and non-histone proteins.

• Chromosomes are the carriers of heredity.

Sets of Chromosome + or - One or more
chromosomes + or -
Arms are called chromatids.

Two chromatids joined

at centromere (primary
constriction, kinetochore).

1 or 2 secondary constrictions.

Nucleolus originates in
secondary constriction 1.

Satellite body (SAT body).

Telomere.

Chromatid has chromonema

which has DNA strand.
Types of chromosomes according to the position
of centromere

I J L V
SEX CHROMOSOMES
(ALLOSOMES) X-CHROMOSOME Y-CHROMOSOME
It determines femaleness It determines maleness

It is longer than Y chromosome It is shorter than X chromosome

It is submetacentric It is acrocentric

It is straight, elongated and rod like It is like a tiny grain of rice

It has longer non-homologous part It has shorter non homologous part

Euchromatin is more Euchromatin is less
It is genetically more active It is genetically less active (inert)

It is present in both male and female It is present in males only

Linkage
The genes present on the same chromosome have a tendency
to be inherited together. Such genes are called linked genes.

Two genes that are located close to each other on a chromosome

are having a tendency to be inherited together and the process is
called linkage.
COMPLETE LINKAGE INCOMPLETE LINKAGE
The linked genes which are closely located on The linked genes which are distantly
the chromosome do not separate (no crossing located on the same chromosome and
over) and inherit together. have chances of separation by crossing
over, are known as incompletely linked
(weakly linked) genes.
The parental traits are inherited in offsprings. New traits occur in offsprings.
Linkage groups
All the linked genes in a particular chromosome, is called
a linkage group.
The linkage groups of a species corresponds to its haploid
number of chromosomes. Drosophila has 4 linkage groups.

Eg. Garden pea has 7 linkage groups.

• Sex-linkage
Inheritance of X-linked & Y-linked genes from parents to offspring.
They are X-linked, Y-linked, & XY-linked.
COMPLETE SEX LINKAGE INCOMPLETE SEX LINKAGE
It is present in genes located on It is present in genes located on
non-homologous regions of X and Y homologous regions of X and Y
chromosomes. chromosomes.
There is no crossing over in this region, Crossing over occurs. So they
so they inherit together. do not inherit together.

Eg. of X-linked traits are haemophilia, red Eg. of X-Y linked traits are colour
green colour blindness, myopia. blindness, nephritis, retinitis pigmentosa.
Y-linked traits are hypertrichosis, ichthyosis.
Crossing over
 It is recombination of genes by interchanging & exchanging
segments between non-sister chromatids of homologous
chromosomes.
 Occurs in pachytene of prophase 1 of meiosis.
 It consists of synapsis, tetrad formation, crossing over &
terminalization.
 It increases chances of
variation.
 Morgan’s Experiment
Drosophila melanogaster
First cross
Yellow - bodied, White - eyed X Brown - bodied, Red - eyed
Genes are in X – chromosome.
Parental combination is more than non parental combination.
This is due to linkage.
Strongly linked genes show few recombinations (1.3%).

Second cross
White bodied, miniature wings X Wild types
Weakly linked genes show high recombinations (37.2%).
T.H. MORGAN
(1866-1945)
 AUTOSOMAL INHERITANCE
Transmission of characters other than sex linked traits
through autosomes.
 Autosomal dominant traits are Widow’s peak and
Huntington’s disease.
 Autosomal recessive traits are Phenyl ketonuria (PKU),
Cystic fibrosis and Sickle cell anaemia. ww
Widow’s peak:
V shaped hair line.
Autosomal dominant gene.
WW & Ww
 Phenylketonuria (PKU):
 Inborn metabolic disorder due to recessive autosomal
genes in homozygous condition.
 Phenylalanine hydroxylase enzyme is not produced.
 So phenylalanine is not converted into tyrosine.
 It is accumulated in blood and cerebrospinal fluid (CSF).
 It causes mental retardation.
 Excess is excreted in urine and called phenylketonuria.
 Sex Linked Inheritance
Genes located on non-homologous region of sex
chromosomes, are called sex-linked genes.
The traits that are determined by sex-linked genes, are
called sex-linked traits.
The inheritance of sex linked genes from parents to
their offsprings, is called sex-linked inheritance.
There are two types of sex-linked genes
a. X-linked genes.
b. Y-linked genes.
 Y-linked (Holandric) genes
 Genes located on non-homologous region of Y
chromosome, are called Y linked genes.
 Y linked genes are inherited directly from male to male.
Eg. Hypertrichosis: .Excessive hair growth on ear pinna.
Ichthyosis: Skin disorder.
 X-linked (sex linked) genes
 The X linked genes are located on non-homologous region
of X chromosome and these genes do not have
corresponding alleles on Y chromosome.
 In female two recessive sex linked genes are required for
.
expression.
 Females with one recessive gene are carriers.
 Male has only one X chromosome and if it has X linked
recessive gene, then it is expressed.
 There is no dominant gene on Y to suppress the effect. So
it’s more frequent in males than in females.
Eg. Haemophilia, Colour blindness, Myopia, Night blindness.
 Colour blindness (XC)
• Colour blindness is X-linked recessive disorder where
person is unable to distinguish between red and green
colours as both the colours appear grey.

• The inheritance of colour blindness can be studied in the

following two types of marriages.
1 2

Criss-cross inheritance
 Haemophilia (Bleeder’s disease)
 Hemophilia is X-linked recessive disorder in
which blood fails to clot or coagulates very
slowly.
 The gene is present in non homologous region of
X chromosome.
 It causes deficiency of clotting factors in blood.

Royal disease
 1 2
Haemophilic

Haemophilic

Criss-cross inheritance
 Sex determination
• In some species, both male and female
reproductive organs are present in same organism,
it is described as bisexual or hermaphrodite or
monoecious.
• On the other hand, some species in which the
organism has either male or female reproductive
organs, is said to be dioecious or unisexual.
• Humans are dioecious.
 Sex determination in human beings
• The chromosomal mechanism of sex determination in
human beings is XX-XY type.
• In human beings, the nucleus of each somatic cell
contains 46 chromosomes or 23 pairs of
chromosomes.
• Human female has a pair of XX, homomorphic sex
chromosomes while male has XY, heteromorphic sex
chromosomes.
Female = 44 autosomes + XX
Male = 44 autosomes + XY
 Father is responsible for determination of sex of
child not the mother.
 Sex determination in birds
• In birds, the chromosomal mechanism of sex
determination is ZW-ZZ type.
• Females are heterogametic and produce two types of
eggs, 50% eggs carry Z- chromosome, while 50% eggs
carry W- chromosome.
• Males are homogametic and produce one type of
sperms. Each sperm carries a Z- chromosome. Thus,
sex of individual depends on the kind of egg (ova)
fertilized by the sperm.
Sex determination in birds
 Sex determination in honey bees
Haplo-diploid type:
 Sex of individual is determined by the number of set of
chromosomes received.
 Females are diploid (2n=32) and males are haploid
(n=16).
 Female - Haploid egg & Male - Haploid sperm.
 If the egg is fertilized by sperm, the zygote develops into
a diploid female (queen & worker) and unfertilized egg
develops into haploid male (drone) by way of
parthenogenesis.
Haplo-diploid type
 Sex determination in honey bees
 The diploid female gets differentiated into either
worker or queen depending on the food they
consume during their development.
 Diploid larvae which get royal jelly as food develops
into queen (fertile female) and other develops into
workers (sterile females).
 Genetic Disorders
Chromosomal disorders
Mendelian disorders
Absence or excess of one
Alteration or Mutation in
or more chromosome or
the gene. abnormal arrangement.

Eg. Thalassemia, Sickle cell

Eg. Down’s syndrome,
anaemia,Phenylketonuria,
Turner’s syndrome,
Colour blindness,
Klinefelter’s syndrome.
Haemophilia.
 Thalassemia
 Autosomal, inherited recessive disease.
 It is caused due to deletion or mutation of gene
which codes for alpha (α) and beta (ß) globin chains
that result in abnormal synthesis of haemoglobin.

 Haemoglobin consists of 2 alpha (α) & 2 beta (ß) chains.

 Alpha chains are synthesized by genes HBA1 & HBA2 on
chromosome 16.
 Beta chain is synthesized by single gene HBB on
chromosome 11.
 Thalassemia
If Alpha chain is affected it is If Beta chain is affected it is
Alpha Thalassemia. Beta Thalassemia.

• In Thalassemia, person shows symptoms like anaemia, pale

yellow skin, change in size & shape of RBCs, slow growth &
development, dark urine, etc.
• Massive blood transfusion is needed to these patients.
• It is a quantitative problem of synthesizing less number of
globin molecule.
 Down’s Syndrome - 21st Trisomy
 It is caused due to the presence of three copies of 21st
chromosome (trisomy) instead of homologous pair.
 This person will have 47 chromosomes instead of the
normal number 46.
 21st Trisomy is due to non-disjunction or failure of
separation of chromosomes (autosomes) during gamete
formation.
 This occurs mostly in mothers who are over 45 years old.
 These patients show mild or moderate mental retardation
and poor skeletal development.
Distinct facial features like:
Small head, ears and mouth. Open mouth and protruding tongue.
Face is typically flat and rounded with flat nose.
Eyes slant up and out with internal epicanthal folds.
Flat hands & stubby fingers, palm is broad with single palmer crease.

21
 Turner’s Syndrome (X monosomy / XO females)
• It was first described by H.H. Turner.
• It is sex chromosomal disorder caused due to non-
disjunction of chromosome during gamete formation.
• Individual born with Turner’s syndrome has 44 autosomes
with XO (44 + X) (45).
• They are phenotypically female.
• They have a short stature (height) and webbed neck, lower
posterior hair line, broad shield-shaped chest, poorly
developed ovaries and breast, and low intelligence.
 Klinefelter’s syndrome (XXY males)
 It is chromosomal disorder caused due to extra
X chromosome in males (47).
 Genotype of individuals is 44 + XXY (feminized males).
 Extra chromosome is a result of non-disjunction of
X chromosome during meiosis.
 Individual is male and has over all masculine development.
 Voice pitch is harsh and have under developed testis.
 They are tall with long arms, feminine development
(development of breast - Gynecomastia) and no
spermatogenesis, so individuals are sterile.
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