HEREDITY

Introduction

“Like Begets Like” is an important and universal phenomenon of life as the living
beings produce offspring of their own kind. Colour of eye, color of hair, shape of
nose, type of earlobe, etc, are inheritable traits. Have you ever wondered, how do
we inherit traits and characteristics from our father and mother? Some of our
characteristics might have been inherited from our grandparents. How do we
inherit characters from one generation to another? It is because of the genes we
inherit from our parents. These genes are responsible for the physical outlook and
biological functions. The branch of biology that deals with the genes, genetic
variation and heredity of living organisms is called genetics.

Heredity is transmission of characters, from one generation to the next generation,

while variation refers to the differences shown by the individuals of the same
species and also by the offspring of the same parents. All these can happen only
due to chromosomes. Now let’s see what chromosomes are and how they are
composed with DNA, that form the genetic material.
Gregor Johann Mendel - Father of Genetics
Mendel (1822-1884) was an Austrian monk who discovered the basic principles of
heredity through his experiments. His experiments are the foundation for modern
genetics. He was born in 1822 to a family of farmers in Silesian of
Czechoslovakia. After finishing his high school at the age of 18, he entered the
Augustinian Monastery at Brunn as a priest. From there he went to the University
of Vienna for training in physics, mathematics and natural science. Mendel
returned to the monastery in 1854 and continued to work as a priest and teach in
high school. In his leisure time he started his famous experiments on the garden
pea plant. He conducted his experiments in the monastery for about nine years
from 1856 to 1865. He had worked on nearly 10000 pea plants of 34 different
varieties. Mendel noted that they differ from one another in many ways.
Thus Mendel had chosen 7 pairs of contrasting characters for his study as shown in
the table.

Reasons for Mendel’s success

He chose the pea plant as it was advantageous for experimental work in many
aspects

a) It is naturally self-pollinating and so is very easy to raise pure breeding

individuals.

b) It has a short life span as it is an annual and so it was possible to follow

several generations.

c) It is easy to cross-pollinate.

d) It has deeply defined contrasting characters.

e) The flowers are bisexual.

Monohybrid Cross - Inheritance of One Gene

Crosses involving inheritance of only one pair of contrasting characters are
called monohybrid crosses. For example it is a cross between two forms of a single
trait like a cross between tall and dwarf plant.

Mendel’s Explanation of Monohybrid Cross

Parental generation: Pure breeding tall plant and a pure breeding dwarf plant.

F1 generation: Plants raised from the seeds of pure breeding parental cross in
F1 generation were tall and monohybrids.

F2 generation: Selfing of the F1 monohybrids resulted in tall and dwarf plants

respectively in the ratio of 3:1. The actual number of tall and dwarf plants obtained
by Mendel was 787 tall and 277 dwarf. External expression of a particular trait is
known as phenotype. So the phenotypic ratio is 3:1.

In the F2 generation 3 different types were obtained:

Tall Homozygous – TT (Pure) – 1

Tall Heterozygous – Tt – 2

Dwarf Homozygous – tt – 1

So the genotypic ratio 1:2:1. A genotype is the genetic expression of an organism

Mendel’s Interpretation on Monohybrid cross

Based on these observations it was confirmed by Mendel that ‘factors’ are passed
on from one generation to another, now refered to as genes . Tallness and
Dwarfness are determined by a pair of contrasting factors tall plant possess a pair
of factors (represented by T- taking the first letter of the dominant character) and a
plant is dwarf because it possess factors for dwarfness (represented as t- recessive
character).
These factors occur in pairs and may be alike as in pure breeding tall plants (TT)
and dwarf plants (tt). This is referred to as homozygous . If they are unlike (Tt)
they are referred to as heterozygous.

1. Two factors making up a pair of contrasting characters are

called alleles or allelomorphs. One member of each pair is contributed by one
parent.

2. When two factors for alternative expression of a trait are brought together by
fertilization only one expresses itself, (tallness) masking the expression of the other
(dwarfness). The character which expresses itself is called dominant condition
and that which is masked is called recessive condition.
3. The factors are always pure and when gametes are formed, the unit factors
segregate so that each gamete gets one of the two alternative factors. It means that
factors for tallness(T) and dwarfness(t) are separate entities and in a gamete either
T or t is present. When F1 hybrids are self crossed the two entities separate and
then unite independently, forming tall and dwarf plants.

Monohybrid Cross - Inheritance of One Gene

Crosses involving inheritance of only one pair of contrasting characters are
called monohybrid crosses. For example it is a cross between two forms of a single
trait like a cross between tall and dwarf plant.

Mendel’s Explanation of Monohybrid Cross

Parental generation: Pure breeding tall plant and a pure breeding dwarf plant.

F1 generation: Plants raised from the seeds of pure breeding parental cross in
F1 generation were tall and monohybrids.

F2 generation: Selfing of the F1 monohybrids resulted in tall and dwarf plants

respectively in the ratio of 3:1. The actual number of tall and dwarf plants obtained
by Mendel was 787 tall and 277 dwarf. External expression of a particular trait is
known as phenotype. So the phenotypic ratio is 3:1.

In the F2 generation 3 different types were obtained:

Tall Homozygous – TT (Pure) – 1

Tall Heterozygous – Tt – 2

Dwarf Homozygous – tt – 1

So the genotypic ratio 1:2:1. A genotype is the genetic expression of an organism

Mendel’s Interpretation on Monohybrid cross

Based on these observations it was confirmed by Mendel that ‘factors’ are passed
on from one generation to another, now refered to as genes . Tallness and
Dwarfness are determined by a pair of contrasting factors tall plant possess a pair
of factors (represented by T- taking the first letter of the dominant character) and a
plant is dwarf because it possess factors for dwarfness (represented as t- recessive
character).

These factors occur in pairs and may be alike as in pure breeding tall plants (TT)
and dwarf plants (tt). This is referred to as homozygous . If they are unlike (Tt)
they are referred to as heterozygous.

1. Two factors making up a pair of contrasting characters are

called alleles or allelomorphs. One member of each pair is contributed by one
parent.
2. When two factors for alternative expression of a trait are brought together by
fertilization only one expresses itself, (tallness) masking the expression of the other
(dwarfness). The character which expresses itself is called dominant condition
and that which is masked is called recessive condition.

3. The factors are always pure and when gametes are formed, the unit factors
segregate so that each gamete gets one of the two alternative factors. It means that
factors for tallness(T) and dwarfness(t) are separate entities and in a gamete either
T or t is present. When F1 hybrids are self crossed the two entities separate and
then unite independently, forming tall and dwarf plants.

Mendel’s Laws
Based on his experiments of monohybrid and dihybrid cross, Mendel proposed three important laws
which are now called as Mendel’s Laws of Heredity.

Mendel’s Laws
Based on his experiments of monohybrid and dihybrid cross, Mendel proposed
three important laws which are now called as Mendel’s Laws of Heredity.

Law of Dominance:
“When two homozygous individuals with one or more sets of contrasting
characters are crossed, the characters that appear in the F 1 hybrid are dominant
and those that do not appear in F1 are recessive characters".

Law of Segregation or Law of purity of gametes:

“When a pair of contrasting factors or genes or allelomorphs are brought
together in a heterozygote or hybrid, the two members of the allelic pair remain
together without mixing and when gametes are formed, the two separate out, so
that only one enters each gamete.”

Law of independent assortment:

“In case of inheritance of two or more pairs of characters simultaneously, the
factors or genes of one pair assort out independently of the other pair.”
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Chromosomes, DNA and Genes

The chromosomes are highly condensed coiled chromatin fibres packed with the DNA
(Deoxyribonucleic acid) that forms the genetic material.

Chromosomes, DNA and Genes

The human body is made up of million cells. The nucleus of each cell contains thin
thread like structures called chromosomes. The term ‘chromosomes’ was first
coined by Waldeyer in 1888. The chromosomes are the carrier of genetic material
which contain the heredity information.

The chromosomes are highly condensed coiled chromatin fibres packed with
the DNA (Deoxyribonucleic acid) that forms the genetic material. Genes are
segments of DNA, which are responsible for the inheritance of a particular
phenotypic character. Each gene is present at a specific position on a
chromosome called its locus. During cell division, the genetic information present
in the genes are passed from one generation to another.

1. Structure of a Chromosome
The chromosomes are thin, long and thread like structures consisting of two
identical strands called sister chromatids. They are held together by the
centromere. Each chromatid is made up of spirally coiled thin structure
called chromonema. The chromonema has number of bead-like structures along
its length which are called chromomeres. The chromosomes are made up of
DNA,RNA, chromosomal proteins (histones and non-histones) and certain metallic
ions. These proteins provide structural support to the chromosome .

A chromosome consists of the following regions

Primary constriction: The two arms of a chromosome meet at a point

called primary constriction or centromere. The centromere is the region where
spindle fibres attach to the chromosomes during cell division.

Secondary constriction: Some chromosomes possess secondary constriction at

any point of the chromosome. They are known as the nuclear zone or nucleolar
organizer (formation of nucleolus in the nucleus).

Telomere: The end of the chromosome is called telomere. Each extremity of the
chromosome has a polarity and prevents it from joining the adjacent
chromosome. It maintains and provides stability to the chromosomes.

Satellite: Some of the chromosomes have an elongated knob-like appendage at

one end of the chromosome known as satellite. The chromosomes with satellites
are called as the sat-chromosomes.
2. Types of Chromosomes based on the position of
Centromere
Based on the position of centromere, the chromosomes are classified
as Telocentric, Acrocentric, Submetacentric and Metacentric

a) Telocentric– The centromere is found on the proximal end. They are rod
shaped chromosomes.

b) Acrocentric – The centromere is found at the one end with a short arm and
a long arm. They are also rod-shaped chromosomes.

c) Submetacentric – The centromere is found near the centre of the

chromosome. Thus forming two unequal arms. They are J shaped or L shaped
chromosomes.

d) Metacentric – The centromere occurs in the centre of the chromosome and

form two equal arms. They are V shaped chromosomes

3. Types of Chromosomes based on function

The eukaryotic chromosomes are classified into autosomes and allosomes.
Autosomes contain genes that determine the somatic (body) characters. Male
and female have equal number of autosomes.

Allosomes are chromosomes which are responsible for determining the sex of an
individual. They are also called as sex chromosomes or hetero-chromosomes.
There are two types of sex chromosomes, X and Y- chromosomes. Human male
have one X chromosome and one Y chromosome and human female have two X
chromosomes.

4. Karyotype
The number of chromosomes in any living organism (animal or plant) is constant.
In human, each cell normally contains 23 pairs of chromosomes. Out of which 22
pairs are autosomes and the 23rd pair is the allosome or sex chromosome.

In the body cells of sexually reproducing organisms, the chromosomes generally

occur in pairs. This condition is called diploid (2n). The gametes produced by the
organisms contain a single set of chromosomes. Hence, the gametes are said to
be haploid (n).

Karyotype is the number, size and shape of chromosomes in the cell nucleus of
an organism. Idiogram is the diagrammatic representation of karyotype of a
species. It consists of all the metaphasic chromosomes arranged in homologous
pairs according to decreasing length, thickness, position of centromere, shape
etc., with the sex chromosomes placed at the end.
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Structure of DNA
DNA is the hereditary material as it contains the genetic information. It is the
most important constituent of a chromosome. The most widely accepted model
of DNA is the double helical structure of James Watson and Francis Crick. They
proposed the three-dimensional model of DNA on the basis of X-ray diffraction
studies of DNA obtained by Rosalind Franklin and Maurice Wilkins. In appreciation
of their discoveries on the molecular structure of nucleic acids Watson, Crick and
Wilkins were awarded Nobel prize for Medicine in 1962.

Chemical Composition of DNA molecule

DNA is a large molecule consisting of millions of nucleotides. Hence, it is also
called a polynucleotide. Each nucleotide consists of three components.

1. A sugar molecules – Deoxyribose sugar.

2. A nitrogenous base.

There are two types of nitrogenous bases in DNA. They are

(a) Purines (Adenine and Guanine)

(b) Pyrimidines (Cytosine and Thymine)

3. A phosphate group

Nucleoside and Nucleotide

Nucleoside = Nitrogen base + Sugar

Nucleotide = Nucleoside + Phosphate

The nucleotides are formed according to the purines and pyrimidines present in
them.

1. Watson and Crick model of DNA

1. DNA molecule consists of two polynucleotide chains.

2. These chains form a double helix structure with two strands which run anti-
parallel to one another.

3. Nitrogenous bases in the centre are linked to sugar-phosphate units which

form the backbone of the DNA.

4. Pairing between the nitrogenous bases is very specific and is always between
purine and pyrimidine linked by hydrogen bonds.

· Adenine (A) links Thymine (T) with two hydrogen bonds (A = T)

· Cytosine (C) links Guanine (G) with three hydrogen bonds( C ≡ G)

This is called complementary base pairing.

5. Hydrogen bonds between the nitrogenous bases make the DNA molecule
stable.

6. Each turn of the double helix is 34 A° (3.4 nm). There are ten base pairs in a
complete turn.

7. The nucleotides in a helix are joined together by phosphodiester bonds.

2. DNA Replication
DNA replication is one of the basic process that occurs within a cell. DNA
molecule produces exact copies of its own structure during replication process.
The two strands of a DNA molecule have complementary base pairs, the
nucleotides of each strand provide the information needed to produce its new
strand. The two resulting daughter cells contain exactly the same genetic
information as the parent cell. DNA replication involves the following steps

Origin of replication

The specific points on the DNA, where the replication begins, is the site of
origin of replication. The two strands open and separate at this point forming
the replication fork.
Unwinding of DNA molecule

The enzyme called helicase, bind to the origin of replication site. Helicase
separates the two strands of the DNA. The enzyme
called topoisomerase separates the double helix above the replication fork and
removes the twists formed during the unwinding process. Each of the separated
DNA strands function as a template.

Formation of RNA primer

An RNA primer is a short segment of RNA nucleotides. The primer is synthesized

by the DNA template close to the origin of replication site.

Synthesis of new complementary strand from the parent strand

After the formation of RNA primer, nucleotides are added with the help of an
enzyme DNA polymerase and a new complementary strand of DNA is formed
from each of the parent strand. The synthesis is unidirectional.

In one strand, the daughter strand is synthesized as a continuous strand which is

called leading strand. In the other strand, short segments of DNA are synthesized.
This strand is called lagging strand. The short segments of DNA are called Okazaki
fragments. The fragments are joined together by the enzyme, DNA ligase.

The replication stops when the replication fork of the two sides meet at a site
called terminus, which is situated opposite to origin of replication site

3. Significance of DNA
· It is responsible for the transmission of hereditary information from one
generation to next generation

· It contains information required for the formation of proteins.

· It controls the developmental process and life activities of an organism.

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Sex Determination
The formation of zygote into male or female sex during development is called sex determination. Sex
is determined by the chromosomes of an individual.

Sex Determination
The formation of zygote into male or female sex during development is called sex
determination. Sex is determined by the chromosomes of an individual.

1. Sex Determination in Human

Recall that human beings have 23 pairs of chromosomes out of which 22 pairs are
autosomes and one pair (23rd pair) is the sex chromosome. The female gametes
or the eggs formed are similar in their chromosome type (22+XX) . Therefore,
human females are homogametic.

The male gametes or sperms produced are of two types. They are produced in
equal proportions. The sperm bearing (22+X) chromosomes and the sperm
bearing (22+Y) chromosomes. The human males are called heterogametic.
It is a chance of probability as to which category of sperm fuses with the egg. If
the egg (X) is fused by the X-bearing sperm an individual (female) is produced. If
the egg (X) is fused by the Y-bearing sperm an XY individual (male) is produced.
The sperm, produced by the father, determines the sex of the child. The mother is
not responsible in determining the sex of the child.

Now let’s see how the chromosomes take part in this formation. Fertilization of
the egg (22+X) with a sperm (22+X) will produce a female child (44+XX). while
fertilization of the egg (22+X) with a sperm (22+Y) will give rise to a male child
(44+XY).

2. Mutation
The term mutation was introduced by Hugo De Vries in 1901 when he
observed phenotypic changes in the evening primrose plant, Oenothera
lamarckiana. Mutation is an inheritable sudden change in the genetic material
(DNA) of an organism. Mutations are classified into two main types, namely
chromosomal mutation and gene mutation.
1. Chromosomal mutation
The sudden change in the structure or number of chromosomes is called
chromosomal mutation. This may result in

(i) Changes in the structure of chromosomes: Structural changes in

the chromosomes usually occurs due to errors in cell division. Changes in the
number and arrangement of genes takes place as a result of deletion, duplication,
inversion and translocation in chromosomes.

(ii) Changes in the number of chromosomes: They involve addition or deletion in

the number of chromosomes present in a cell. This is called ploidy. There are two
types of ploidy

(a) Euploidy (b) Aneuploidy.

Euploidy: It is the condition in which the individual bears more than the usual
number of diploid (2n) chromosomes. If an individual has three haploid sets of
chromosomes, the condition is called triploidy (3n). Triploid plants and animals
are typically [Link] it has four haploid sets of chromosomes, the condition is
called tetraploidy (4n). Tetraploid plants are advantageous as they often result in
increased fruit and flower size.
Aneuploidy: It is the loss or gain of one or more chromosomes in a set. It is of
three types. Monosomy (2n-1), Trisomy (2n+1)and Nullisomy (2n-2). In man,
Down’s syndrome is one of the commonly known aneuploid condition.

Down’s syndrome

This condition was first identified by a doctor named Langdon Down in1866.

It is a genetic condition in which there is an extra copy of chromosome 21

(Trisomy 21). It is associated with mental retardation, delayed development,
behavioural problems, weak muscle tone, vision and hearing disability are some
of the conditions seen in these children.
2. Gene or point mutation
Gene mutation is the changes occurring in nucleotide sequence of a gene. It
involves substitution, deletion, insertion or inversion of a single or more than one
nitrogenous base. Gene alteration results in abnormal protein formation in an
organism.

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Heredity (Science)
Points to Remember

· Variations are quite apparent among closely related groups of organisms.

· Mendel had choosen seven pairs of distinguishing traits: flower colour,

position, seed colour, shape, pod colour, pod shape, stem length.

· Every pea plant has two ‘factors’ which are responsible for producing a
particular character or trait is called allele.

· The process of acquiring characters or traits from parents is called

‘Heredity’.
· Each human cell contains 23 pairs of chromosomes. Out of these 22 pairs
are called autosomes and one pair is called allosomes.

· A chromosome consists of the regions: primary constriction, centromere,

secondary constriction, telomere and satellite.

· Based on the position of the centromere, the chromosomes are classified as

telocentric, acrocentric, sub metacentric and metacentric chromosomes.

· Each nucleotide of DNA consists of a deoxyribose sugar, a nitrogenous base

and a phosphate group. Pairing is always between a purine and a pyrimidine.

· The sperm, produced by the father, determines the sex of the child. The
mother is not responsible in determining the sex of the child.

· Mutation is an inheritable change in the genetic material of an organism.

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Choose the correct answer

1. According to Mendel alleles have the following character

a) Pair of genes

b) Responsible for character

c) Production of gametes

d) Recessive factors

2. 9 : 3 : 3 : 1 ratio is due to

a) Segregation

b) Crossing over

c) Independent assortment

d) Recessiveness

3. The region of the chromosome where the spindle fibres get attached during
cell division

a) Chromomere

b) Centrosome

c) Centromere

d) Chromonema

4. The centromere is found at the centre of the ________________

chromosome.

a) Telocentric

b) Metacentric

c) Sub-metacentric

d) Acrocentric
5. The _____________ units form the backbone of the DNA.

a) 5 carbon sugar

b) Phosphate

c) Nitrogenous bases

d) Sugar phosphate

6. Okasaki fragments are joined together by ___________________.

a) Helicase

b) DNA polymerase

c) RNA primer

d) DNA ligase

7. The number of chromosomes found in human beings are

__________________.

a) 22 pairs of autosomes and 1 pair of allosomes.

b) 22 autosomes and 1 allosome

c) 46 autosomes

d) 46 pairs autosomes and 1 pair of allosomes.

8. The loss of one or more chromosome in a ploidy is called ___________.

a) Tetraploidy

b) Aneuploidy

c) Euploidy
d) polyploidy

II. Fill in the blanks

1. The pairs of contrasting character (traits) of Mendel are called alleles.

2. Physical expression of a gene is called phenotype

3. The thin thread like structures found in the nucleus of each cell are
called chromosomes.

4. DNA consists of two polynucleotide chains

5. An inheritable change in the amount or the structure of a gene or a

chromosome is called mutation.

III. Identify whether the statement are True or False.

Correct the false statement

1. A typical Mendelian dihybrid ratio of F2 generation is 3:1. - False

A typical mendelian dihybrid ratio of F2 generation is 9:3:3:1.

2. A recessive factor is altered by the presence of a dominant factor. - False

The expression of a recessive factor is altered by the presence of a dominant factor.

3. Each gamete has only one allele of a gene. - True

4. Hybrid is an offspring from a cross between genetically different parent. - True

5. Some of the chromosomes have an elongated knob-like appendages known as
telomere. - False

Some of the chromosome have an elongated knob-like appendage known as satellite.

6. New nucleotides are added and new complementary strand of DNA is formed
with the help of enzyme DNA polymerase. - True

7. Down’s syndrome is the genetic condition with 45 chromosomes. - False

Down's syndrome is the genetic condition with 47 chromosmes.

IV. Match the following

1. Autosomes - Trisomy 21

2. Diploid condition - 9:3:3:1

3. Allosome - 22 pair of chromosome

4. Down’s syndrome - 2n

5. Dihybrid ratio - 23rd pair of chromosome

Answer:

1. Autosomes - 22 pairs of chromosome

2. Diploid condition - 2n

3. Allosome - 23rd pair of chromosome

4. Downs syndrome - Trisomy 21

5. Dihybrid ratio - 9:3:3:1

V. Answer in a sentence
1. What is a cross in which inheritance of two pairs of contrasting characters are
studied?

Dihybrid cross.

2. Name the conditions when both the alleles are identical?

Homozygous condition.

3. A garden pea plant produces axial white flowers. Another of the same species
produced terminal violet flowers. Identify the dominant trait?
Position of flowers : Axillary position is dominant over terminal position of flowers.

Colour of flowers : White colour is dominant over violet colour.

4. What is the name given to the segments of DNA, which are responsible for
the inheritance of a particular character?

Genes.

5. Name the bond which binds the nucleotides in a DNA.

Hydrogen bonds.

VI. Short answers questions

1. Why did Mendel select pea plant for his experiments?

(i) It is naturally self-pollinating and so is very easy to raise pure breeding individuals.

(ii) It has a short life span as it is an annual and so it was possible to follow several generations.

(iii) It is easy to cross-pollinate.

(iv) It has deeply defined contrasting characters.

(v) The flowers are bisexual.

2. What do you understand by the term phenotype and genotype?

External expression of a particular trait is known as phenotype. A genotype is the genetic expression of
an organism

3. What are allosomes?

(i) Allosomes are chromosomes which are responsible for determining the sex of an individual.

(ii) They are also called as sex chromosomes or hetero - chromosomes.

(iii) There are two types of sex chromosomes, X and Y- chromosomes.

4. What are Okazaki fragments?

During the replication of a DNA molecule, the new strand is synthesized in short segments which are called
Okazaki fragments. There are joined together by the enzyme DNA ligase.

5. Why is euploidy considered to be advantageous to both plants and animals?

(i) Euploid plants often result in increased fruit and flower size. Therefore it is advantageous for them.

(ii) The euploid animals are sterile.

6. A pure tall plant (TT) is crossed with pure dwarf plant (tt), what would be the
F1 and F2 generations? Explain.
Crosses involving inheritance of only one pair of contrasting characters are called monohybrid cross.

Cross between pure tall (TT) plant and Pure dwarf (tt) plant
Parental Generation : Pure breeding Tall and dwarf plants are crossed (TT x tt).

F1 Generation : Monohybrids are heterozygous tall.

F2 Generation : Selfing of the F1 monohybrids takes place. Tall and dwarf plants are obtained in the ratio of
3:1 which is the phenotypic ratio. Genotypically plants are of three types as shown above and therefore
genotypic ratio is 1:2:1.

7. Explain the structure of a chromosome.

(i) The chromosomes are thin, long and thread like structures consists of two identical strands called sister
chromatids.
(ii) They are held together by the centromere.

(iii) Each chromatid is made up of spirally coiled thin structure called chromonema. The chromonema has
number of bead-like structures along its length which are called chromomeres.

(iv) The chromosomes are made up of DNA, RNA, chromosomal proteins (histones and non-histones) and
certain metallic ions. These proteins provide structural support to the chromosome.

A chromosome consists of the following regions:

Primary constriction : The two arms of a chromosome meet at a point called primary constriction or
centromere. The centromere is the region where spindle fibres attach to chromosomes during cell division.

Secondary constriction : Apart from the primary constriction, some chromosomes possess secondary
constriction at any point of the chromosome. They are known as the nuclear zone or nucleolar organizer
(formation of nucleolus in the nucleus).

Telomere : The end of the chromosome is called telomere. It maintains and provides stability to the
chromosomes.

Satellite : Some of the chromosomes have an elongated knob-like appendage at one end of the
chromosome known as satellite. The chromosomes with satellites are called as the sat-chromosomes.
8. Label the parts of the DNA in the diagram given below. Explain the structure
briefly.

Watson and Crick model of DNA:

(i) DNA molecule consists of two polynucleotide chains.

(ii) These chains form a double helix structure with two strands which run anti-parallel to one another.

(iii) Nitrogenous bases in the centre are linked to sugar-phosphate units which form the backbone of the
DNA.

(iv) Pairing between the nitrogenous bases is very specific and is always between purine and pyrimidine
linked by hydrogen bonds.

★ Adenine (A) links Thymine (T) with two hydrogen bonds (A = T)

★ Cytosine (C) links Guanine (G) with three hydrogen bonds( C = G)

This is called complementary base pairing.

(v) Hydrogen bonds between the nitrogenous bases make the DNA molecule stable.

(vi) Each turn of the double helix is 34 A° (3.4 nm). There are ten base pairs in a complete

(vii) The nucleotides in a helix are joined together by phosphodiester bonds.

Nucleotides in a DNA

P - Phosphate

A - Adenine

G - Guanine

T- Thymine

C - Cytosine

VII. Long answer questions

1. Explain with an example the inheritance of dihybrid cross. How is it different

from monohybrid cross?

Answer:

Dihybrid cross involves the inheritance of two pairs of contrasting

characteristics (or contrasting traits) at the same time. The two pairs of
contrasting characteristics chosen by Mendel were shape and colour of
seeds: round-yellow seeds and wrinkled-green seeds.

(i) Mendel first crossed pure breeding pea plants having round-yellow seeds with
pure breeding pea plants having wrinkled-green seeds and found that only round-
yellow seeds were produced in the first generation (F1).

(ii) From this it was concluded that round shape and yellow colour of the seeds
were dominant traits over the wrinkled shape and green color of the seeds.

(iii) When the hybrids of F1 generation pea plants having round-yellow seeds were
cross-bred by self pollination, then four types of seeds having different
combinations of shape and color were obtained in second generation or
F2 generation. They were round yellow, round-green, wrinkled
yellow and wrinkled-green seeds.

(iv) The ratio of each phenotype (or appearance) of seeds in the F2 generation is
9:3:3:1. This is known as the Dihybrid ratio.

(v) From the above results it can be concluded that the factors for each character or
trait remain independent and maintain their identity in the gametes. The factors are
independent to each other and pass to the offsprings (through gametes).

Results of a Dihybrid Cross: Mendel got the following results from his dihybrid
cross:
(i) Four types of plants: A dihybrid cross produced four types of F2 offsprings in
the ratio of 9 with two dominant traits, 3 with one dominant trait and one recessive
trait, 3 with another dominant trait and another recessive trait and 1 with two
recessive traits.

(ii) New combination: Two new combinations of traits with round green and
wrinkled yellow had appeared in the dihybrid cross (F2 generation).

P. Herence between dihybrid of monohybrid uses :

(i) Dihybrid cross is different from a monohybrid cross because it involves

inheritance of two pairs of contrasting characters. In monohybrid cross, only
inheritance of 1 pair of contrasting character is studied.

(ii) Further results of monohybrid cross is based on two alleles of a gene.

(iii) Results of dihybrid cross is based on two different genes controlling two
different characters and their alleles.

2. How is the structure of DNA organised? What is the biological significance of

DNA?

Answer:

Structure of DNA : The most widely accepted model of DNA is the double
helical structure of James Watson and Francis Crick.

Chemical Composition of DNA molecule : DNA is a large molecule consisting

of millions of nucleotides. Hence, it is also called a polynucleotide. Each
nucleotide consists of three components.

(i) A sugar molecules - Deoxyribose sugar.

(ii) A nitrogenous base.

There are two types of nitrogenous bases in DNA. They are

(a) Purines (Adenine and Guanine)

(b) Pyrimidines (Cytosine and Thymine)

(iii) A phosphate group

Nucleoside and Nucleotide :

Nucleoside = Nitrogen base + Sugar

Nucleotide = Nucleoside + Phosphate

The nucleotides are formed according to the purines and pyrimidines present in
them.

Watson and Crick model of DNA :

(i) DNA molecule consists of two polynucleotide chains.

(ii) These chains form a double helix structure with two strands which run anti-
parallel to one another.

(iii) Nitrogenous bases in the centre are linked to sugar-phosphate units which
form the backbone of the DNA.

(iv) Pairing between the nitrogenous bases is very specific and is always between
purine and pyrimidine linked by hydrogen bonds.

● Adenine (A) links Thymine (T) with two hydrogen bonds (A = T)

● Cytosine (C) links Guanine (G) with three hydrogen bonds( C ≡ G)

This is called complementary base pairing.

(v) Hydrogen bonds between the nitrogenous bases make the DNA molecule
stable.

(vi) Each turn of the double helix is 34 A° (3.4 nm). There are ten base pairs in a
complete turn.

(vii) The nucleotides in a helix are joined together by phosphodiester bonds.

Significance of DNA:

(i) It is responsible for the transmission of hereditary information from one

generation to next generation.

(ii) It contains information required for the formation of proteins.

(iii) It controls the developmental process and life activities of an organism.

3. The sex of the new born child is a matter of chance and neither of the parents
may be considered responsible for it. What would be the possible fusion of
gametes to determine the sex of the child?

Answer:

(i) Human beings have 23 pairs of chromosomes out of which 22 pairs are auto
somes and one pair (23rd pair) is the sex chromosome.

(ii) The female gametes or the eggs formed are similar in their chromosome type
(22 + X). Therefore, human females are homogametic.

(iii) The male gametes or sperms produced are of two types.

(iv) The sperm bearing (22+X) chromosomes and the sperm bearing (22+Y)
chromosomes. The human males are called heterogametic.

(v) It is a chance of probability as to which type of sperm fuses with the egg.

(vi) If the egg (X) is fused by the X-bearing sperm an XX individual (female) is
produced.

(vii) If the egg (X) is fused by the Y-bearing sperm an XY individual (male) is
produced.
(viii) The sperm, produced by the father, determines the sex of the child. The
mother is not responsible in determining the sex of the child.

VIII. Higher Order Thinking Skills (HOTS)

1. Flowers of the garden pea are bisexual and self-pollinated. Therefore, it is

difficult to perform hybridization experiment by crossing a particular pistil with
the specific pollen grains. How Mendel made it possible in his monohybrid and
dihybrid crosses?
Mendel selected the plants to be used as male and female parent. He removed the stamen from the
flower of the plant which was taken up as the female parent. Self pollination will not be possible in this
flow. Further he also kept the stigma covered so that no other pollen other than the desired variety will
fall on the stigma. Thus mendel was above 40 percent self pollination in the plants selected for crossing.

2. Pure-bred tall pea plants are first crossed with pure-bred dwarf pea plants.
The pea plants obtained in F 1 generation are then cross-bred to produce
F2 generation of pea plants.

a. What do the plants of F1 generation look like?

b. What is the ratio of tall plants to dwarf plants in F 2 generation?

c. Which type of plants were missing in F 1 generation but reappeared in

F2 generation?
(a) The plants of the F1 generation will be tall.

(b) The ratio of tall: dwarf plants (phenotypic ratio) will be 3:1 in the F2 generation.

(c) The- dwarf plants were missing in the F1 generation but reappeared, in F2 generation.
3. Kavitha gave birth to a female baby. Her family members say that she can
give birth to only female babies because of her family history. Is the statement
given by her family members true. Justify your answer.
No. The statement given by her family members is false. The birth of male or female babies is by random
combination of a sperm and egg. Sperms are of two kinds based on sex chromosome (X chromosome &Y
chromosome). The eggs always have only X chromosome (sex chromosomes).

If a sperm with X chromosome fuses with an egg, a girl baby is born.

If a sperm with Y chromosome fuses with an egg, a boy baby is born. The sex of the baby depends on the
type of sperm which fertilizes the ovum.

IX. Value based question

1. Under which conditions does the law of independent assortment hold good
and why?
Law of independent assortment:

The law was proposed based on dihybrid cross. The cross involves the inheritance of two pairs of
contrasting characters at the same time.

(i) Each character is determined by a pair of alleles. (Dominant and recessive).

(ii) Each allele is contributed by a parent to the offspring.

(iii) The results of the dihybrid cross performed by Mendel showed 4 combination of characters in the
ratio of 9 : 3 : 3 : 1.

(iv) It can be concluded that the factors for each character or trait remain independent and maintain
their identity in the gametes. The factors are independent to each other and pass to the offsprings
(through gametes).

Therefore the conditions for the law of Independent Assortment are:

(a) Each trait is determined by a pair of alleles.

(b) The inheritance of all the alleles governing the two traits must be independent of each other.
Variation
Sexual reproduction, which involves meiosis helps in recombination of genes during gametic fusion.
This leads to differences in the phenotype of the offspring from its parents. These differences are
called variation.

Variation
Sexual reproduction, which involves meiosis helps in recombination of
genes during gametic fusion. This leads to differences in the phenotype of the
offspring from its parents. These differences are called variation.
Variation is the difference found among individuals of the same species and the
offspring of the same parent. Variation is the raw material which plays an
important role in evolution. Evolution would not be possible without variation.

Types of variations
Somatic variation: These are the variations which affect the body (somatic) cells
of the organisms. They are not heritable. They occur due to environmental
factors.

Germinal variation: These variations are produced in germ cells of an organism.

They are inherited. They may be present in ancestors or may occur suddenly.
They are classified into two types:

1. Continuous variation

2. Discontinuous variation

Continuous variation: These are small variations which occur among individuals
of a population. They are also called as fluctuating variations. They occur
by gradual accumulation in a population. e.g. skin colour, height and weight of an
individual, colour of eye, etc.

Discontinuous variation: These are sudden changes which occur in an organism

due to mutations. They do not have any intermediate forms. These large
variations are not useful for evolution. e.g. short legged Ancon sheep, six or more
digits (fingers) in human, etc.

Discontinuous variation form the basis for Mutation theory proposed by De Vries.