5
Chapter
PRINCIPLES OF INHERITANCE
AND VARIATION
NCERT CRUX
Genetics is a branch of biology that deals with the
study of heredity and variations. Mendelism
Heredity is the transfer of characters from parents to
Gregor Johann Mendel began his genetic experiments
their offspring. These hereditary characters are present
on garden pea in 1856.
on the chromosomes in the form of genes.
Selection of pea plant: The main reasons for adopting garden
Variations may be defined as the differences in
pea (Pisum sativum) for experiments were:
characters of offspring. It mainly depends upon
unique process of crossing-over that occurs during Pea has many distinct contrasting characters.
meiosis. This is one of the main reasons of producing Life span of pea plant is short.
recombination. Flowers show self-pollination.
Gene is a unit of inheritance which passes from one It is easy to artificially cross-pollinate the pea flowers.
generation to the next through the gamete and controls The hybrids thus produced were fertile.
the expression of a character. Experimental method: Mendel’s experiment were performed
Allele or Allelomorph represents the two alternative in three stages:
forms of gene. Selection of pure breed as parents.
Character is the feature of the individual e.g., stem Hybridisation and obtaining F1 generation of plants.
height.
Self pollination of hybrid plants and raising of
Trait is an inherited character and its detectable variant subsequent generations.
e.g., tall or dwarf.
Table: Contrasting Traits Studied by Mendel in Pea
Homozygote (Homozygous individuals) is an
individual which contains identical alleles of a gene on S. No. Characters Contrasting Traits
its homologous chromosomes e.g., TT or tt 1. Stem height Tall/dwarf
Heterozygote (Heterozygous individual) is an 2. Flower colour Violet/white
individual which contains two different alleles of a gene 3. Flower position Axial/terminal
on its homologous chromosomes, e.g., Tt 4. Pod shape Inflated/constricted
F1 or Filial 1 Progeny is the generation of hybrids 5. Pod colour Green/yellow
produced from a cross between the genetically different 6. Seed shape Round/wrinkled
individuals called parents. 7. Seed colour Yellow/green
F2 or Filial 2 Progeny is the generation of individuals
which arises as a result of interbreeding amongst
individuals of F1 progeny. Mendel’s Work and Results
Genotype is the genetic constitution of an individual. Mendel studied the obtained results and on their
Phenotype is the observable characteristic of an basis, he proposed certain laws known as “Laws of
individual which is a result of gene products. inheritance”. These laws are discussed below:
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Law of Dominance The principle of segregation is also called the principle
This law states that: of purity of gametes because segregation of the two
factors of a trait results in gamete receiving only one
Characters are controlled by discrete units called factors.
factor out of a pair. As a result gametes are always pure
Factors occurs in pairs. for a character.
When two contrasting genes for a character come
together in an organism, only one is expressed externally Law of Independent Assortment
and shows visible effect. It is called dominant gene and It states that inheritance of two or more genes when
the other gene of the pair which does not express and occur at one time, their distribution in the gametes and
remains hidden is called recessive. in the progeny of subsequent generations is independent
Law of Segregation or Purity of Gametes of each other.
This law states that: To prove this, he did a dihybrid cross. He crossed
homozygous dominant round and yellow seeded
Both parental alleles (recessive and dominant) separate
(RRYY) plants with homozygous recessive green and
and are expressed phenotypically in F2 generation.
wrinkled seeded (rryy) plants.
When F2 generation was produced by allowing F1 hybrid
The F1 hybrid was self-pollinated and F2 generation
to self-pollinate, to find out segregation or separation it
was obtained with the phenotypic ratio of 9 : 3 : 3 :
was observed that both dominant and recessive plants
1 and genotypic ratio of 1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1.
appeared in 3 : 1 ratio. It can be understood by Mendel’s
monohybrid cross, say between a pure tall pea plant
(TT) and dwarf (tt) pea plant on the reciprocal cross.
The hybrids produced in F1 generations are all tall
though they have also received the factor for dwarfness.
If the hybrids are allowed to self breed, the plants of
the F2 generation appear to be both tall and dwarf in
the phenotypic ratio of 3 : 1 and genotypic ratio of
1 : 2 : 1.
Phenotypic ratio: Round yellow (R * Y*) : Round green (R * yy) :
Wrinkled yellow (rr Y *) : Wrinkled green (rryy)
Fig.: Results of a dihybrid cross where the two parents
differed in two pairs of contrasting traits:
seed colour and seed shape.
Fig.: Diagrammatic representation of monohybrid cross [* – It refers that allele could be either dominant or recessive]
Principles of Inheritance and Variation 81
Back Cross: The gene for blood group occurs in three allelic forms
IA, IB and i. A person carries two of these alleles.
• A cross between F1 hybrid (Aa) and one of its parents
(AA or aa). The alleles IA and IB produce a slightly different form
• It is used to achieve offspring with a genetic identity of the sugar while allele i does not produce any sugar.
closer to that of parent. When IA and IB are present together, both are equally
• Back cross includes test cross. dominant and produce glycoproteins A and B and the
Test Cross: blood group is AB. This is because of co-dominance.
• A cross between F1 hybrid (Aa) and its homozygous Since there are three different alleles, there are six
recessive parent (aa). different combinations of these three alleles that are
• This cross is called test cross because it helps to find out possible, and therefore, a total of six different genotypes
whether the given dominant phenotype is homozygous of human ABO blood type.
or heterozygous.
Table: Table Showing the Genetic Basis of
Blood Groups in Human Population
Incomplete Dominance Allele from Allele from Genotype of Blood types
Parent 1 Parent 2 offspring of offspring
When neither of the alleles of a character is completely
dominant over the other and the F1 hybrid is intermediate IA IA IA IA A
between the two parents, the phenomenon is called IA IB IA IB AB
incomplete dominance.
IA i IA i A
The most common example of incomplete dominance
is flower colour in snapdragon or Antirrhinum species. IB IA IA IB AB
Homozygous red (RR) flowered variety was crossed IB IB IB IB B
with white (rr) flowered variety. F1 offspring obtained IB i IBi B
had pink flowers (Rr). This is called incomplete
i i ii O
dominance.
Chromosomal Theory
of Inheritance
F1 generation Mendel published his work on inheritance of characters
in 1865 but for several reasons, it remained unnoticed
and unappreciated. The reasons are:
F2 generation
R r ● He used mathematical approach to solve a
biological phenomenon.
RR Rr
R Red Pink ● Lack of communication and publicity.
Rr rr ● Concept of factors as discrete units that did not
r Pink White
blend with each other was not accepted in the light
Phenotypic ratio: Red : Pink : White of variations occurring continuously in nature.
1 : 2 : 1 ● He was unable to provide any physical proof for
Genotypic ratio: RR : Rr : rr the existence of factors.
1 : 2 : 1 In 1900, three scientists (de Vries, Correns and von
The phenotypic and genotypic ratio in F2 generation Tschermak) independently rediscovered Mendel’s
is 1 : 2 : 1. result on the inheritance of characters.
By this time due to advancements in microscopy that
were taking place, scientists were able to carefully
Multiple Alleles / Co-dominance
observe cell division. This led to the discovery of
When a gene exists in more than two allelic forms, structures in the nucleus that appeared to double and
it shows the phenomenon of multiple alleles. A well divide just before cell division.
known example is the inheritance of A, B and O blood Chromosome theory of inheritance was proposed by
groups in human being. Sutton and Boveri independently in 1902.
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Both the scientists found a close similarity between the Human skin colour is controlled by three genes A, B
transmission of hereditary characters and behaviour of and C. The dominant forms A, B and C responsible for
chromosomes while passing from the one generation to dark skin colour and the recessive forms a, b and c for
the next through agency of gametes. light skin colour. The genotype with all the dominant
alleles (AABBCC) will have the darkest skin colour and
Salient features of chromosomal theory: that with all the recessive alleles (aabbcc) will have the
• Both chromosomes as well as genes occur in pairs in the lightest skin colour. The genotype with three dominant
somatic or diploid cells. and three recessive alleles have an intermediate skin
• Homologous chromosomes separate during gamete colour. Thus, the number of each type of alleles in the
formation.
genotype would determine the darkness or lightness of
• The paired condition of both chromosomes as well as
the skin in an individual.
Mendelian factor is restored during fertilization.
Pleiotropy
Experimental verification of chromosomal theory: The gene which affects many aspects of phenotype or controls
Experimental verification of chromosomal theory of several phenotypes, is said to be a pleiotropic gene and this
inheritance was given by Thomas Hunt Morgan and phenomenon is called pleiotropy e.g., phenylketonuria, the
his colleagues. disease caused by mutation in the gene that codes for the
enzyme phenylalanine hydroxylase (single gene mutation).
Morgan worked with tiny fruit flies, Drosophila This single gene mutation will affect several phenotypic
melanogaster. expression such as mental retardation, reduction in hair and
Reasons for selecting Drosophila (Fruit fly): skin pigmentation.
Suitable for genetic studies.
Grown on simple synthetic medium in the laboratory. Sex Determination
They complete their life cycle in about two weeks. Those chromosomes which are involved in the
A single mating could produce a large number of determination of sex of an individual are called sex
progeny flies. chromosomes or allosomes while the other chromosomes
Clear differentiation of male and female flies. are called autosomes.
Have many types of hereditary variations that can be ● XX – XY type: In most insects including fruit
seen with low power microscopes. fly (Drosophila) and mammals including human
beings, the females possess two homomorphic
sex chromosomes, XX. The males contain two
Linkage and Recombination heteromorphic sex chromosomes, i.e., XY.
Hence the males produce two types of gametes
Linkage is the phenomenon where two or more /sperms, either with X-chromosome or with
linked genes are always inherited together and their Y-chromosome, so they are called heterogametes.
recombination frequency in a test cross progeny is ● ZZ – ZW type: In birds and some reptiles, the
less than 50%. males are represented as ZZ (homogametes) and
All the genes present on one chromosome form a females with ZW (heterogametes).
linkage group and an organism possesses as many ● XX – XO type: In round worms and some insects,
linkage groups as its haploid number of chromosomes. the females are represented as XX (homogametes)
If the two genes are fully linked, their recombination and males with XO (heterogametes).
frequency will be almost 0%.
Sex Determination in Humans
The frequency of crossing over is used for building
linkage maps or chromosomal maps. Human beings have 22 pairs of autosomes and one pair
of sex chromosomes.
Chromosomal maps was given by Alfred strutevent.
All the ova formed by female are similar in their
Polygenic Inheritance chromosome type (22+X). Therefore, females are
Polygenic inheritance is defined as the quantitative homogametic.
inheritance of multiple independent genes having an The male gametes or sperms produced by human males
additive or cumulative effect on a single quantitative are of two types, (22+X) and (22+Y). Human males are
trait, e.g., Human skin colour. therefore, heterogametic.
Principles of Inheritance and Variation 83
The genetic makeup of the sperm determines the sex of
the child. There is 50% probability of having a female Genetic Disorders
or male child.
If the ovum fertilises with a sperm carrying Pedigree analysis: It is a system to analyze the
X-chromosome the zygote develops into female XX and distribution and movement of characters in the family
the fertilisation of ovum with Y-chromosome carrying tree.
sperm results into a male offspring.
Mendelian Disorders: These are mainly determined
♀ ♂
Parents: by alteration or mutation in the single gene. These
XX XY
disorders are transmitted to the offspring on the same
line as the principle of inheritance.
Gametes: X X X Y
Examples: Haemophilia, Cystic fibrosis, Sickle cell
anaemia, Colour blindness, Phenylketonuria, Thalessemia,
Zygote formed etc.
XX XY XX XY
after the fusion
Female Male Female Male Haemophilia
of gametes:
It is a sex-linked recessive disease, which shows its
Fig.: Sex determination in human beings
transmission from unaffected carrier mother to some of
Sex Determination in Honey Bee the male progeny.
In honey bees, sex determination is based on number of The possibility of female becoming a haemophillic is
sets of chromosomes an individual receives. extremely rare because mother of such a female has to
The offspring formed from the union of sperm and an be at least carrier and father should be haemophilic.
egg develops as female. Haemophilia is a disorder in which a vital factor for
Male or drone develops from an unfertilised egg by the clotting of blood is lacking. So, the clotting of blood is
process called parthenogenesis.
abnormally delayed and it can be fatal.
Females are usually diploid having 32 chromosomes
and males are haploid with 16 chromosomes. This is Punnet Sqaure for Haemophilia
called haplodiploid sex determination system.
Parents Female male
32 16
Meiosis Mitosis
Gametes: 16 16 16
Male Female Offsprings ♀ X Y
F1:
16 32 ♂
XX
Fig.: Sex determination in honey bee Normal
XY
X
Normal son
Daughter
Mutation Xh X Xh X hY
Carrier Haemophilic
It is a phenomenon which results in alteration of DNA daughter son
sequences and consequently results in changes in the
genotype and phenotype of an organism. Colour Blindness
Gene / Point mutation: Due to change in a single base It is a sex-linked recessive disorder due to defect in
pair of DNA. Example: Sickle cell anaemia (GAG →
either red or green cone of eye resulting in failure to
GUG).
discriminate between red and green colour.
Chromosomal mutation: Due to change in structure or
number of chromosomes. Example: Down’s syndrome. This defect is due to mutation in certain genes present
in X-chromosome.
Mutagens: The chemical and physical factors that
induce mutations are known as mutagens. Example: The probability of occurrence of this disease in males is
UV rays. 8 percent and only 0.4 per cent in females.
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Sickle Cell Anaemia Aneuploidy
It is an autosomal-linked recessive trait. It is due to a This arises due to loss or gain of one or more
mutant allele on chromosome 11 (autosome) that causes chromosomes during gamete formation.
substitution of glutamine (GAG) to valine (GUG) at Example: Down’s syndrome, the gain of extra copy
the sixth position of β-chain of haemoglobin. of chromosome 21 (45 + XX or XY) and Turner’s
syndrome, the loss of X-chromosome in human females
The disease is controlled by a single pair of allele HbA
(44 + XO).
and HbS. HbAHbA (normal); HbAHbS (carrier) and
HbSHbS (diseased). Polyploidy
The patient has sickled shaped RBCs with defective In this, there is an increase in a whole set of
haemoglobin. They are destroyed more rapidly than chromosomes.
normal RBCs. Depending upon the number of genome present in a
polyploidy, an organism may be triploid (3n), tetraploid
Thalassemia (4n), pentaploid (5n), hexaploid (6n) and so on.
It is an autosomal recessive disorder. Down’s Syndrome
It is an inherited blood disorder that reduces the Caused due to presence of an additional copy of the
production of functional haemoglobin. chromosome number 21 (trisomy of 21).
It can be of two types: Symptoms: Short statured with small round mouth,
● a-thalassemia, due to inadequate production of palm is broad with characteristic palm crease, physical,
a-chains. psychomotor and mental development is retarded.
● a-thalassemia is controlled by two closely linked Klinefelter’s Syndrome
genes HBA1 and HBA2 on chromosome 16 of It arises due to non-disjunction of X-chromosomes
each parent. during ova formation.
● b-thalassemia, due to inadequate production of Caused due to the presence of an additional copy of
b-chains. X-chromosome resulting into a karyotype of 47 (44 +
XXY).
● It is controlled by a single gene HBB on
chromosome 11 of each parent. Symptoms: A male with underdeveloped breasts
(gynaecomastia), sparse body hair, mentally retarded
Chromosonal Disorders and sterile.
These disorders are caused due to absence or excess or Turner’s Syndrome
abnormal arrangement of one or more chromosomes. Caused due to the absence of one of the X-chrosomes,
A change in the number of chromosomes in an organism i.e., 45 (44 + XO)
arises due to non-disjunction of chromosomes, during Symptoms: A female with rudimentary ovaries, short
gamete formation. stature, lack of secondary sexual characters, they are sterile.
