INTRODUCTION

 inheritance and variations of characters from

parents to offspring
 Father of Genetics is Gregor Johann Mendel.
 Inheritance is the process of passing characters
from parent to progeny. It is the basis of heredity.
 Variations is the degree by which progeny differs
from parents. Variations can be in terms of
physiology, morphology and behavioral
characteristics of individual belonging to same
species. Variations Genetics is the branch of
biology which deals with arise due to reshuffling of
chromosomes, crossing over, mutations and effect
of environment.
MENDEL’S LAW OF INHERITANCE
 Mendel conducted hybridization experiments on garden
peas for seven years (1856-1863). On the basis of these
experiments he proposed the laws of inheritance.
 He selected the characters that has two opposing traits and
concluded his hybridization experiments on 14 true-
breeding pea plant varieties. True-breeding means a
breeding line which has undergone continuous self-
pollination and shows stable trait inheritance and
expression for many generations.
  Reasons for selecting garden pea plant:
 Easily available on large scale.
 There are many varieties with distinct characteristics.
 They are self-pollinated and can be cross-pollinated easily.
 They have a short life cycle.
 Reason for success of Mendel:
 He studied one character at a time.
 He used available techniques to avoid cross pollination by
undesirable pollen grains.
 He applied mathematics and statistics to analyze the results
obtained from him.
 Mendel selected seven contrasting characters for the
experiment.

 INHERITANCE OF ONE GENE (MONOHYBRID

CROSS)
 Mendel crossed tall and dwarf pea plant and collected
the seeds from them. Seeds were used to generate
plants of first generation (F1 or Filial progeny). Mendel
observed that all the first generation plants were tall,
none of them were dwarf. He made similar
observations for the other pairs of traits. He concluded
 that F1 generation resembled either one of the
parents.


 Pic shows STEPS IN MAKING A CROSS IN PEA
 He then self-pollinated the tall F1 plants and he
observed that some of them were dwarf. Out of all,
¼th were dwarf and 3/4th were tall.


 Pic shows Monohybrid cross.
 Similar results were obtained for other traits too. In
F2 generation, both the traits were expressed in
proportion of 3:1. Dominant trait in F2 is about thrice of
the recessive from. These contrasting traits did not
show any blending at either F1 or F2 stage.
 Based on these observations, he concluded that
something was being stably passed from one
generation to the other. He named it ‘factors’ which
are now called as ‘genes’.
 Gene is the unit of inheritance. It contains information
that is required to express a particular trait in an
organism. Genes which code for a pair of contrasting
traits are known as ‘alleles’. They are slightly different
for a same gene.
 For representing traits using alphabetical symbols,
capital letter is used for the trait expressed at
F1 generation and small letter is used for the other
one.
 For example: T for tall trait
 t for dwarf.
 T and t are alleles of each other. Pair of alleles for
height in the plants are TT, Tt and tt.
 TT and tt are homozygous. TT and tt are called
genotype of the plant while the description terms tall
and dwarf are phenotype. Tt represents heterozygous.
 Test cross is the cross between an individual with
dominant trait and a recessive organism. It helps us to
understand whether the dominant trait is homozygous
or heterozygous.

 Pic shows Test Cross.


 The production of gametes by the parents, formation

of zygotes can be easily understood by Punnett
square. It was given by British geneticist RC Punnett.
It is a graphical representation used to calculate
probability of all possible genotypes of offspring in a
genetic cross.


 Pic shows Punnett Square.
 It is typically used for monohybrid cross conducted by
Mendel between true-breeding tall plants and true-
breeding dwarf plants.
LAW OF DOMINANCE
The dominant allele masks the effect of recessive allele. It
explains the expression of only one of the parental characters
in a monohybrid cross in F1 and expression of both in F2.
 Characters are controlled by discrete units called factors.
 In a dissimilar pair of factors one member of pair dominate
the other. For example: allele of tallness (T) is dominant
over allele of dwarf (t).

 LAW OF SEGREGATION
 It states that every individual possess two alleles of a gene
and these alleles segregate from each other during gamete
formation (at the time of meiosis). Alleles do not blend
and both the characters are recovered during gamete
formation in F2 generation.
 Homozygous individuals produce one type of gametes
while heterozygous individuals produce two types of
gametes each having one allele with equal proportion.

INCOMPLETE DOMINANCE
When the experiments were repeated on other traits on other
plants, sometimes it was found that F1 progeny does not
resemble either of the parent, it was a mixture of two.
For example: Snapdragon or Antirrhinum sp. or dog flower –
inheritance of flower color.
Pic shows Incomplete dominance.
Genotypic ratio was same as we would expect in Mendelian
monohybrid cross but phenotypic ratio is changed
CO-DOMINANCE
The two alleles are able to express themselves independently
when present together.
For example: ABO blood grouping in humans is controlled by
gene I. It has three alleles IA, IB and i.
IA, IB are dominant over i. If IA and I are present, only
IA expresses. IA and IB are present both of them express each
other.
ABO blood grouping is also a good example of multiple
alleles.

Mendel also worked with two characters on pea plant. He

chose color and shape of the seed to explain the inheritance of
two genes.
Y – dominant yellow color
y – recessive green color
R – round shape of the seed
r – wrinkled shape of the seed

Phenotypic Ratio:
Round yellow : round green : wrinkled yellow : wrinkled
green
9 : 3 : 3 : 1
Pic shows Dihybrid cross
CHROMOSOMAL THEORY OF INHERITANCE
 Mendel published his work on inheritance of characters in
1865 but was unrecognized till 1900.
 In 1900, de Vries, Correns and von Tschermak worked
independently and rediscovered Mendel’s results.
 In 1902, Walter Sutton and Theodore Boveri studied the
chromosomal movement during meiosis.
 According to this theory,
1. Genes are located at specific locations on the
chromosomes.
2. Chromosomes as well as gene both occur in pairs.
3. Homologous chromosomes separate during meiosis.
4. Fertilization restores chromosome number to diploid
condition.
5. Chromosomes segregate as well as assort independently.

Pic shows Meiosis and Germ cell formation in a cell with four
chromosomes

LINKAGE AND RECOMBINATION

 Morgan carried out several dihybrid crosses
in Drosophila to study genes that were sex-linked.
 Morgan hybridized yellow-bodied, white-eyed females to
brown-bodied, red-eyed males and intercrossed those F1
 According to him, two genes did not segregate
independent of each other and F2 ratio deviated from
9:3:3:1. This concluded that genes are linked. This process
is called linkage.
Recombination is the rearrangement of genetic material. The
generation of non-parental gene combination during dihybrid
cross is called recombination. When genes are located on
same chromosome, they are tightly linked and show less
linkage. This is responsible for variation.
SEX DETERMINATION
 Different organisms have different types of sex
determination.
 Cytological observations in insects led to the development
of concept of genetic or chromosomal basis of sex-
determination.
 In 1891, Henking traced a specific nuclear structure all
through spermatogenesis in few insects.
 He observed specific nuclear structure is located on 50 per
cent of sperms only. The discovered X-body but was
unable to explain its significance.
 In insects, XO type of sex determination is present. All the
eggs have an additional X-chromosome besides the
autosomes. Some sperms bear X-chromosome where as
some do not.
 Eggs fertilized by sperm having having X-chromosome
become females and those fertilized by sperms that do not
have an X-chromosome becomes males.
 For example: grasshopper (males have only one X-
chromosome besides autosomes and females have a pair of
X-chromosomes)

Pic shows Sex determination in Insects

SEX DETERMINATION IN HUMANS
 XY type of sex determination
 Males (XY), Females (XX)
 Drosophila also has XY type of sex determination.

Pic shows sex determination in humans

SEX DETERMINATION IN BIRDS

 ZW type of sex determination is seen in birds.
 Females have ZW and males have ZZ
chromosomes.
 In birds sex is determined by type of ovum.
 In birds, females are heterogametic.
Pic shows Sex determination in birds.
MUTATION
 Mutation is any change in DNA sequence.
 It is a heritable change.
 Mutations can affect genotype as well as
phenotype.
 It also leads to variations.
 Types of mutations: Point mutations, frame-shift
mutations.
 Mutations that occur due to change in a single base
pair of DNA is called as point mutations. For
example: sickle cell anemia
 When there is deletion or insertion of base pairs of
DNA, it causes frame-shift mutations.
 Mutagens are the chemical and physical factors that
induce mutations. UV rays can also cause
mutations.
GENETIC DISORDERS
 Analysis of traits in several generations of family is
called pedigree analysis.
 Inheritance of a particular trait is represented in the
family tree over generations.
 

MENDELIAN DISORDERS
 Autosomal disorders – cystic fibrosis, sickle cell
anaemia, myotonic dystrophy
 Sex-linked – haemophilia, colour blindness
 HAEMOPHILIA – sex-linked recessive disease
 A single protein that is a part of the cascade of
proteins involved in the clotting of blood is affected.
 In affected individual, a simple cut will result in non-
stop bleeding.
 Heterozygous female (carrier) can transmit the
disease to son.
 Possibility of female becoming a haemophilic is
extremely rare.
SICKLE-CELL ANAEMIA

 Autosome linked recessive trait

 It can be transmitted from parents to the offspring when both the parents are
carrier for the gene.
 Disease is controlled by a single pair of allele, HbA and HbS.
 HbS HbS homozygous shows the diseased phenotype.

 Heterozygous individuals HbA HbS show normal

phenotype but they are carrier of the disease.
 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. It
results from single base substitution from GAG to
GUG at sixth codon of the beta globin.
 Due to this, mutant haemoglobin is formed. It
undergoes polymerization under low oxygen tension
causing the change in the shape of the RBCs from
biconcave to elongated sickle-like.
PHENYLKETONURIA
 Inborn error of metabolism, autosomal recessive
trait.
 Affected individual lacks an enzyme that converts
the amino acid phenylalanine into tyrosine.
 Due to which, phenylalanine gets accumulated and
converted into phenylpyruvic acid and other
derivatives.
 This causes mental retardation.
CHROMOSOMAL DISORDERS
 It is caused due to absence or excess or abnormal
arrangement of one or more chromosomes.
 Aneuploidy – failure of segregation of chromatids
during cell division cycle results in the gain or loss
of chromosome.
 Polyploidy – Failure of cytokinesis after telophase
stage of cell division results in an increase in a
whole set of chromosomes in an organism.
 Down’s syndrome – gain of extra copy of
chromosome 21 (trisomy 21)
 It was first described by Langdon Down (1866).
 Affected individual is short with small round head,
furrowed tongue and partially open mouth.
 Broad palm with characteristic palm crease.
 Physical, psychomotor and mental development is
retarded.
Pic shows baby suffering from Down’s syndrome.
 Turner’s syndrome – loss of an X-chromosome in
human females i.e. 45 with XO
 Such females are sterile as ovaries are rudimentary
 Klinefelter’s syndrome – presence of an additional
copy of X-chromosome resulting into karyotype, 47,
XXY.
 Sterile individuals