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Biology s of Inheritance and Varie

Principles of Inheritance and Variation

Important Points, Summary, Revision,
Highlights
Principles of Inheritance and Variation
Heredity is a process of transmission of heritable traits from parents
to their offsprings.

Genetics is the branch of biology dealing with the principles and

mechanism of inheritance and variation.

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. 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'S EXPERIMENT
Seven pairs of contrasting traits
Seed Flower Pod
Form Stem
Cotyledons Color Form
Color Place SIZe

00
 MENDEL'S EXPERIMENT DBYJUI'S

Seven pairs of
contrasting traits
Seed Flower Pod
Form Stem
Cotyledons Color Form Color Place SI2e

Grey& Yellow
Round White Full Yellow AXial pods,
Flowers alongong (6-7t)

White&
Green Violet Terminal pods. Short
Wrinkled Constricted Green (2-1t)
Flowerstop
6

He gave three laws of inheritance

based on his observation:
1. Law of Dominance: One of the alleles is dominant and
gets expressed in the phenotype in case of the
heterozygote, e.g. When we cross homozygous tall (TT)
and dwarf (tt) plants, in the offsprings we get all the tall
plants having the genotype Tt, so tallness is a dominant
trait over dwarfness.
2. Law of Segregation of genes: 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.

MONOHYBRID CROSS OBYJU'Ss

True
Breedingg
Yellow
9

G
Gg Gg
True
Breeding G
Green
Gg Gg

1. Law of Independent assortment: It states that alleles fo

different traits are inherited independently. He showed th
using a dihybrid cross.
 1. Law of Independent assortment: It states that alleles for
different traits are inherited independently. He showed that
using a dihybrid cross.

OBYJU'SThe Learning App

rvRR) X P Generation

FGeneration
Phenotype:
(YyRr

Gametes from Heterozygous Parent

YR yR Yr yr F Generation
YR| (YYRR YyRR) (YYRr (YyRr Phenotype:

yR (yyRR(yyRR)| (YyRr yyRr

-- *-*********

(YYRr (YyRr SYyrr)

yr(YyRr yyRr)Yy y

Test Cross: It is to find out the genotype of the plant showing

dominant trait, the given plant is crossed with the recessive
homozygote. The two observations are:

I f the phenotype of offsprings shows only the dominant trait,

then the parent plant was homozygote to the dominant trait
I f the offsprings produced are of both phenotypes, then the
parent plant was heterozygote to the dominant trait.

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 Fi generation, wh
on self-polination give red: pink: white flowers in the ratid
1:2:1 in the F2 generation

P generation
Red White
RR
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1:2:1 in the F2 generation

P generation

Red White
RR

Gametes

F generation
Pink
Rr

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 l has three allelic forms, 14,
and i. In a human being, any two out of three alleles are
presentA and 1 code for different kinds of sugar polymers
present on the surface of RBC and does not produce any
sugarlA and 15 are dominant over 1, but 1A and 18 are co-
dominant and express themselves together.

Genotype Blood type

Iala A

Ials AB

Isls B

IBi B

ii 0

Chromosomal Theory of Inheritance

Sutton and Boveri supported Mendel's observations a
that chromosomes are the carrier of genes
Chromosomes occur as a homologous pair and the two alleles
of a dene are located on the homolonous Dair of
Chromosomal Theory of Inheritance
Sutton and Boveri
supported Mendel's observations and stated
that chromosomes are the carrier of
genes
.Chromosomes occur as a homologous pair
ofa
and the two alleles
gene are located on the homologous pair of
chromosomes at the same site
.Homologous chromosomes separate during meiosis in the
process of gamete formation
Chromosomes segregate and assort independently
During fertilization, gametes combine and produce
the
offsprings with the diploid no. of chromosomes, that is similar
to the parent

.Morgan extensively worked on fruit flies, Drosophila

melanogaster and provided experimental evidence to support
the chromosomal theory of inheritance

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 ofthe effect of a gene on metabolic pathway
E.g. a single gene mutation in the gene coding for the enzyme
phenylalanine hydroxylase results in the disease known as
phenylketonuria, which is characterised by mental retardation,
reduced hair and skin pigmentation.
04:34 l l 55

reduced hair and skin pigmentation.

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

Mutation
Any changes in the sequence of DNA is called a mutation.
Viable mutations get inherited from one generation to
andne
A mutation changes the genotype as well as the
an organism
phenotyp
.It is linked to various diseases, but not all mutations are
harmful
.Changes like, deletion, insertion, duplication, substitution, etc.
reslt in miutatinn A mitation ie the mainr raise nf cancer
04:46

Mutation
DNA is called a mutation.
Any changes in the sequence of
to another.
Viable mutations get inherited from one generation
of
A mutation changes the genotype as well as the phenotype
an organism
I t is linked to various diseases, but not all mutations are

harmful
etc.
.Changes like, deletion, insertion, duplication, substitution,
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 B-globin chain of
haemoglobin changes from GAG to GUG, resulting in e

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.

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.

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

Genetic disorders can be grouped into two types:

1. Mendelian Disorders
.These are disorders due to alteration in the single gene
.It follows the same inheritance pattern, as per Mende>'s law

Pedigree analysis can help trace the inheritance pattern

also determine if the trait is dominant or recessive

Mendelian Disorders

Name Genetic Trait Cause

Colour blindness X-linked recessive Defect in t

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.

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.

Genetic disorders can be grouped into two types:

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

Name Genetic Trait Cause

Colour blindness X-linked recessive Defect in the gre

Haemophilia X-linked recessive Defect in one pr

Sickle cell anaemia Autosome-linked recessive A single point m

Thalassemia Autosome-linked recessive Mutation inthe

Phenylketonuria Autosome-linked recessive Lack of an enzy1

2. Chromosomal Disorders

These are disorders due to excess, absence or abnormal

arrangement of chromosomes

.Chromosomal disorders are oftwo types:

) Aneuploidy- Gain or loss of one or more chromosome
due to failure of segregation of chromatids during anap
meiosis
(ii) Polyploidy- It is often found in plants. This happens dueto
an increase in the full set of chromosomes. Failure of
06:53

Sickle cell anaemia Autosome-linked recessive A single point m

Thalassemia Autosome-linked recessive Mutation in the

Phenylketonuria Autosome-linked recessive Lack of an enzy1

2. Chromosomal Disorders

.These are disorders due to excess, absence or abnormal

arrangement of 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
Gi) 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
.Some 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

Click here to know more about chromosomal disorders in humans.

Explore the next chapter for important points with regards to the
NEET exam, only at BYJU'S. Check the NEET Study Material for all the
important concepts and related topics.

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