INTRODUCTION

GENETICS is the branch of biology dealing with the principles and mechanism of
inheritance and variation.

HEREDITY is a process of transmission of heritable traits from parents to their

offsprings.

INHERITANCE is the basis of heredity and by this process, traits are passed on
from the parents to the offsprings. Continuity of the gene pool is maintained by the process of
inheritance.

GENES are the basic unit of inheritance and located on chromosomes.

VARIATION exists among individuals of one species. Variation is due to crossing

over, recombination, mutation and environmental effects on the expression of genes present on
chromosomes.

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 MENDEL’S LAWS OF INHERITANCE

Gregor Johann Mendel is called “Father of genetics”.

Mendel performed experiments on Garden pea (Pisum sativum). He took 14 true-

breeding plants of pea having seven distinguishable characters, which have two opposite traits.

He called genes as “factors”, which are passed from parents to offsprings.

Genes, that code for a pair of opposite traits are called “alleles”.

Mendel recognized that a gene can exist in different forms (alleles), and he
concluded that when an organism has two different alleles, one of the two may be dominant
and the other is said to be recessive.

MENDEL’S EXPERIMENT

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 INHERITANCE OF ONE GENE

Hybridisation experiment carried out by Mendel where he crossed tall and dwarf
pea plants to study the inheritance of one gene. 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
also called the Filial1 progeny or the F1. Mendel observed that all the F1 progeny plants were
tall, like one of its parents; none were dwarf.

The capital letter is used for the trait expressed at the F1 stage and the small letter
for the recessive trait. TT and tt are identical or homozygous and they are called
the genotype of the plant while the descriptive terms tall and dwarf are the phenotype. Hybrids
contain alleles which express contrasting traits, are heterozygous.

Alleles can be similar as in the case of homozygotes TT and tt or can be dissimilar

as in the case of the heterozygote Tt. Since the Tt plant is heterozygous for genes controlling
one character (height), it is a monohybrid and the cross between TT and tt is a monohybrid
cross.

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PUNNETT SQUARE
The production of gametes by the parents, the formation of the zygotes, the F1 and
F2 plants can be understood from a diagram called Punnett Square. It was developed by a
British geneticist, Reginald C. Punnett. It is a graphical representation to calculate the
probability of all possible genotypes of offspring in a genetic cross.

A Punnett square used to understand a typical monohybrid cross conducted by Mendel between true-
breeding tall plants and true-breeding dwarf plants.

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 Based on his observations on monohybrid crosses Mendel proposed two general
rules to consolidate his understanding of inheritance in monohybrid crosses. Today these rules
are called the Principles or Laws of Inheritance :

a. The First Law or Law of Dominance

b. The Second Law or Law of Segregation.

1. LAW OF DOMINANCE

(i) Characters are controlled by discrete units called factors.

(ii) Factors occur in pairs.

(iii) In a dissimilar pair of factors one member of the pair dominates (dominant) the
other (recessive).

The law of dominance is used to explain the expression of only one of the parental
characters in a monohybrid cross in the F1 and the expression of both in the F2. It also
explains the proportion of 3:1 obtained at the F2.

2. LAW OF SEGREGATION

Each allele separates during meiosis at the time of gamete formation. There is no
blending and characters are passed to different gametes. Homozygotes produce only
one kind of gametes and heterozygotes produce different kinds of gametes.

 CO-DOMINANCE

 When both the alleles express themselves together in an individual, they are said to be
co-dominant

 Example: The inheritance of the ABO blood group in humans is controlled by

the gene I. The gene I has three allelic forms, IA, IB and i. In a human being, any two
out of three alleles are present IA and IB code for different kinds of sugar polymers
present on the surface of RBC and ‘i’ does not produce any sugar IA and IB are dominant
over ‘i’, but IA and IB are co-dominant and express themselves together.

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  INCOMPLETE DOMINANCE

 When neither of the two alleles is dominant and the phenotype of the heterozygote does
not resemble any of the parents. The heterozygote expresses intermediate or a mixture
of two parents’ traits

 Example: The flower colour inheritance of snapdragon (dog flower). On crossing true
breeding red (RR) and white flower (rr), we get all pink colour flowers in the
F1 generation, which on self-pollination give red: pink: white flowers in the
ratio 1:2:1 in the F2 generation.

Results of monohybrid cross in

the plant Snapdragon, where
one allele is incompletely
dominant over the other allele

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 INHERITANCE OF TWO GENE

A cross made to study simultaneous inheritance of two pairs of mendelian factors of genes.

1. LAW OF INDEPENDENT ASSORTMENT

It states that alleles for different traits are inherited independently. He showed
that using a dihybrid cross.

Results of a dihybrid cross where the two parents differed in two pairs of contrasting traits: seed
colour and seed shape

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 2. CHROMOSOMAL THEORY OF INHERITANCE

 Chromosome as well as gene both occurs in pair. The two alleles of a gene pair
are located on the same locus on homologous chromosomes.

 Sutton and Boveri argued that the pairing and separation of a pair of
chromosomes would lead to segregation of a pair of factors (gene) they carried.

 Sutton united the knowledge of chromosomal segregation with mendelian

principles and called it the chromosomal theory of inheritance.

3. LINKAGE AND RECOMBINATION

 Physical association of genes located on a chromosome is known as linkage.

 In a dihybrid cross, if the two genes are tightly linked or present on the same
chromosome, the parental combination is more prevalent than non-parental
combinations or recombinants.

 The linkage and recombination are directly dependent on the distance between a pair
of genes. More the distance, greater is the probability of recombination.

Multiple alleles : When a trait is governed by more than two alleles, e.g. ABO blood
group.

Polygenic Inheritance : When a trait is governed by multiple independent genes, that

have a similar or additive effect on the trait, it is known as polygenic inheritance, e.g.
eye colour, skin pigmentation, height, hair colour, etc. Polygenic inheritance is also
affected by environmental conditions.

Pleiotropy : When a single gene controls many phenotypic traits, it is known as a

pleiotropic gene. The different phenotypic expressions are mostly a result of the effect
of a gene on metabolic pathways. Eg : The enzyme phenylalanine hydroxylase results
in the disease known as phenylketonuria.

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 Linkage: Results of two dihybrid crosses conducted by Morgan. Cross A shows crossing
between gene y and w; Cross B shows crossing between genes w and m. Here dominant wild
type alleles are represented with (+) sign in superscript.

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 SEX DETERMINATION
 There are different systems of sex determination present in different organisms.

 Henking first observed X chromosome and named it X body.

 The chromosomes that determine the development of sexual characters are known as
sex chromosomes and the rest of the chromosomes are known as autosomes.

 When the male produces two different kinds of gamete, it is known as male
heterogamety, e.g. humans, grasshoppers, drosophila, etc.

 When the female produces two different kinds of gamete, it is known as female
heterogamety, e.g. birds.

Sex determination in different animals

Name Male Female

Human XY XX

Drosophila XY XX

Grasshopper (insects) XO XX

Birds ZZ ZW

Sex determination in the honey bee:

 Haplo-diploid sex-determination system

 Female (queen or worker) is formed by the fusion of an egg and sperm and
have diploid (32) no. of chromosomes

 Male (drone) is formed from an unfertilized egg by parthenogenesis and

have haploid (16) no. of chromosomes. Sperms are produced by mitosis
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 MUTATION
 Any changes in the sequence of DNA is called a mutation. Viable mutations get
inherited from one generation to another. A mutation changes the genotype as well as
the phenotype of an organism

 It is linked to various diseases, but not all mutations are harmful

 Changes like, deletion, insertion, duplication, substitution, etc. result in mutation. A

mutation is the major cause of cancer. There are many mutation inducing agents
(mutagens) such as UV rays.

There are two types of genetic mutation:

1. Point mutation: There is a substitution in the single base pair of DNA, e.g. in
the sickle cell anaemia. The 6th codon of the gene coding for the ઺-globin chain
of haemoglobin changes from GAG to GUG, resulting in the substitution of
glutamic acid by Valine.

2. Frameshift mutation: It results from the insertion or deletion of one or more

pairs of bases in DNA. it changes the reading frame of triplet codons, that code
for certain amino acids of the protein.

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 GENETIC DISORDERS
There are many disorders in the human being that are inherited and caused due to mutation in
the gene or alteration in chromosomes. Genetic disorders can be grouped into two types:

a. Mendelian Disorders

b. Chromosomal Disorders

Pedigree Analysis helps in determining the risk of getting a genetic disorder in the
offsprings by studying the inheritance pattern of a particular trait present in various generations
of an individual.

Symbols used in the human pedigree analysis

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 1. MENDELIAN DISORDERS

 These are disorders due to alteration in the single gene

 It follows the same inheritance pattern, as per Mendel’s law

 Pedigree analysis can help trace the inheritance pattern and also determine if the trait is
dominant or recessive.

MENDELIAN DISORDERS

Genetic
Name Cause Effects Inheritance pattern
Trait

X-linked Defect in the green Unable to A daughter will be

recessive or red cone of the discriminate between colour blind only if
eye red and green colour the father is colour
blind
Colour
There is a 50 percent
blindness
probability of a
carrier female to
transfer the disease to
sons

X-linked Defect in one Continuous bleeding A daughter will be

recessive protein involved in from wounds colour blind only if
the clotting of blood the father is colour
blind
Haemophilia There is a 50 percent
probability of a
carrier female to
transfer the disease to
sons

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 Autosome- A single point Anaemia Offsprings may get
linked mutation in the the disease when
Sickle cell
recessive beta-globin chain of both the parents are a
anaemia
haemoglobin carrier
(heterozygote)

Autosome- Mutation in the Formation of Offsprings may get

linked genes HBA1 and abnormal the disease when
Thalassemia recessive HBA2 present on haemoglobin both the parents are a
the chromosome 16 molecule resulting in carrier
anaemia (heterozygote)

Autosome- Lack of an enzyme Mental retardation. Offsprings may get

linked that converts Accumulation and the disease when
Phenylketonuria recessive phenylalanine to excretion of both the parents are a
tyrosine phenylalanine and its carrier
derivatives in urine (heterozygote)

Micrograph of the red blood cells and the amino acid composition of the relevant portion of β-chain of
haemoglobin: (a) From a normal individual; (b) From an individual with sickle-cell anaemia

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2. CHROMOSOMAL DISORDERS

These are disorders due to excess, absence or abnormal arrangement of one or more
chromosomes.

Chromosomal disorders are of two types:

(i) Aneuploidy- Gain or loss of one or more chromosomes. It is due to failure of segregation
of chromatids during anaphase of meiosis.

(ii) Polyploidy- It is often found in plants. This happens due to an increase in the full set of
chromosomes. Failure of cytokinesis results in polyploidy.

The total number of chromosomes in a normal human cell is 46 (23 pairs). Out of these 22 pairs
are autosomes and one pair of chromosomes are sex chromosome. An additional copy of a
chromosome may be included in an individual or an individual may lack one of any one pair
of chromosomes. These situations are known as trisomy or monosomy of a chromosome,
respectively. Such a situation leads to very serious consequences in the individual. Down’s
syndrome, Turner’s syndrome, Klinefelter’s syndrome are common examples of chromosomal
disorders.

Down’s syndrome : Trisomy of chromosome 21. Symptoms include mental retardation, short
stature, furrowed tongue, partially opened mouth.

Klinefelter’s syndrome : Total 47 chromosomes with one extra X chromosome, i.e. XXY,
They are sterile, tall, overall masculine with feminine characteristics such as breast
development (gynecomastia).

Turner’s syndrome : Total 45 chromosomes. One X chromosome is missing, i.e. XO. females
are sterile, short stature and under-developed sexual characters.

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