KEY DEFINITIONS:

Heredity: This is the transfer of characters or traits from the parents to their off springs.
• Variations: These are the differences between characters or traits among the individuals of the
same species.
Genetics: is the study of heredity and variation.
→ Accumulation of Variations During Reproduction
When organisms reproduce, the off springs show minor variations due to inaccuracies in DNA
copying. These variations are less in asexual reproduction and more in sexual reproduction.
Some variations are useful variations and they help the organism to adjust to the changes in the
environment. Some variations do not help the organism to adjust to the changes in the environment
and they may die and become extinct.
→ Basic Principles of Inheritance of Characters (traits)
Characters are transferred through genes present in the DNA molecules in the chromosomes
present in the nucleus of the cell.
The inheritance of characters is due to the fact that both the father and mother contributes equal
amount of genetic material to the child. So for each trait there are two factors one from the father
and one from the mother.
Gregor Johann Mendel conducted experiments with garden pea plants and determined the rules for
the inheritance of traits.
→ Importance of Genes and Chromosomes
Genes and Their Functions
● Genes are specific segments of DNA that direct the production of proteins in the body.
● The size of a gene is determined by the size of the protein it codes for.
● Genes are located on structures called chromosomes, which are found in the nucleus of
cells.
→ Traits and Mutations

● A trait is any characteristic influenced by one or more genes.

● Some traits result from mutated genes, which may be inherited or arise from new
(spontaneous) mutations.
→ Genotype and Phenotype
● A person's genotype (or genome) refers to their full set of genes essentially, the body's
instruction manual for building and functioning.
 ● The phenotype is the visible or measurable expression of those genes, such as physical
appearance or behaviour.
● Not all genetic instructions are always expressed; expression depends on:
Environmental factors (e.g., illness, diet)
● The genotype itself
● Other unknown influences
→ Chromosomes and Gene Location
● Genes are stored on chromosomes inside cells.
● Humans typically have 46 chromosomes in each body cell:
● 22 pairs of autosomes (non-sex chromosomes)
● 1 pair of sex chromosomes (XX for females, XY for males)
● Each person inherits:
One set of 23 chromosomes from their mother (egg)
● One set of 23 chromosomes from their father (sperm)
→ Numbering and Inheritance
● Chromosomes are numbered 1 to 22 based on size (1 is the largest).
● Each autosome pair contains two copies of each gene one from each parent.
● When fertilization occurs, the sperm and egg combine to form a cell with 46 chromosomes
(23 pairs)
→ Sex Determination
● Sex chromosomes determine a person's biological sex:
● XX= Female
● XY = Male
● The mother always contributes an X chromosome.
● The father contributes either an X or a Y, determining the sex of the child.
● The X chromosome carries many more genes than the Y chromosome.
● Genes on these chromosomes are called:
X-linked (on the X chromosome)
● Y-linked (on the Y chromosome)
→ Karyotype
A karyotype is a visual representation of all the chromosomes in a person's cells.
• It helps identify chromosome number and structure.
→ Control Of Gene Expression
Gene Expression
All the cells in the human body originate from a single fertilized egg and contain identical. DNA.
Despite this, different cell types (e.g., muscle, nerve, liver cells) look and function differently
because different genes are turned on (expressed) in different cells.
• Gene expression: is a process by which specific genes are activated to produce a required protein
or function in a cell.
Factors Influencing Gene Expression
Gene expression is selective and regulated by several factors:
• Type of tissue: Different tissues activate specific sets of genes.

Age of the organism: Gene activity can change as the body matures or ages.
● Chemical signals: Hormones and other molecules can switch genes on of off.
● Environmental and internal cues: Temperature, diet, disease, and stress can also affect gene
expression.
Gene Regulation Mechanisms
● DNA contains regulatory sequences that signal when a gene should begin or stop being
expressed.
● Chemical markers on DNA or associated proteins act like signals to turn transcription on or
off.
a. Transcription Regulation
● Genes are controlled during transcription (the process of copying DNA into mRNA).
Start and stop markers help regulate this process.
● Histones, which DNA winds around, can either block or permit gene transcription depending
on their chemical state.
b. Translation Regulation
• Gene expression can also be controlled after transcription, during translation (the process of
forming proteins from mRNA).
• Antisense RNA: This is a strand of RNA that can bind to a complementary mRNA strand and
prevent it from being translated into protein.
DNA Replication and Cell Division
● For cells to divide, they must copy their DNA so that each new cell receives a complete set.
● DNA replication process:
. The double-stranded DNA unwinds and separates into two single strands.
. Each original strand serves as a template for building a new strand
. Complementary base pairing occurs:
● Adenine (A) pairs with Thymine (T)
● Guanine (G) pairs with Cytosine (C)
4. Two identical DNA molecules are produced, each containing one old and one new strand.
Gregor Johann Mendel (1822-1884)
Mendel was educated in a monastery and went on to study science and mathematics at the
University of Vienna.
Failure in the examinations for a teaching certificate did not suppress his zeal for scientific quest.
He went back to his monastery and started growing peas.
Many others had studied the inheritance of traits in organisms earlier, but Mendel blended his
knowledge of science and mathematics and was the first one to keep count of individuals exhibiting
a particular trait in each generation.
This helped him to arrive at the laws of inheritance
Mendel's Experimental Plant
Mendel selected garden pea plant (Pisum sativum) for series of hybridization experiments because
of the following reasons:

. It had a short lifecycle and, therefore, it was possible to study number of generations
. The plants could easily be raised, maintained and handled
. Each plant produced many seeds in one generation
. Garden pea had distinct, easily detectable contrasting variants of features e.g. some were
tall and some dwarf, some had violet flowers and some had white, some had round seeds and
some had wrinkled seeds and so on. Mendel in fact noted seven pairs of such contrasting
characters in garden pea plant.
Mendel's Experimental Technique
He conducted breeding experiments in three steps:
. Selection of pure parent plants i.e. plants producing similar traits in every generation.
. Production of first filial (F1) generation of plants by cross breeding (hybridization).
. Raising of second filial (F2) and subsequent generations (F3, F4, etc.) by self pollination
(fertilization) of F1 generation hybrids.
When plants having one pair of character (Eg:- tall and short plant) was crossed (Monohybrid cross)
Mendel selected pea plants having one pair of character - a tall pea plant and a short pea plant. He
selected pure tall (TT) and pure short (tt) pea plants and cross pollinated them. He obtained all tall
plants (Tt) in the first generation (F1). When the first generation plants were. self pollinated, he
obtained tall and dwarf plants in the ratio 3:1 (phenotypic ratio) in the second generation. (F2)
The ratio of pure tall (TT), hybrid tall (Tt) and pure dwarf (tt) was in the ratio 1:2:1 (genotypic ratio).
He therefore concluded that sexually reproducing individuals have two copies of genes for the same
traits. The trait that is expressed in the Fi generation is called the dominant trait and the trait that is
suppressed in the Fi is called the recessive trait.. The characters are not lost even when they are
not expressed.
When Plants Having Two Pairs of Characters (eg:- Shape And Colour Of Seeds) Were* Crossed
(Dihybrid Cross)
Mendel selected pea plants having two pairs of characters - shape and colour of seed. He selected
plants having round yellow seeds (RRYY) and wrinkled green seeds (tryy) and cross pollinated
them. He obtained all plants with round yellow seeds (RrYy) in the Fi generation.
When these plants were self pollinated in the Fz generation out of 16 plants, 9 had round yellow
(RrYy), 3 had round green (Rryy), 3 had wrinkled yellow (rYy) and 1 had wrinkled green (rryy) seed.
In the ratio 9:3:3:1.
He therefore concluded that traits in one individual may be inherited separately, given rise to new
combinations of traits in the offspring of sexually reproducing individuals

Different species used different strategies for this.

. Some rely entirely on environmental cues. Thus in some animals, the temperature at which
fertilized eggs are kept determines whether the animals developing in the eggs will be male
or female.
. In other animals, such as snails, individuals can change sex indicating that sex is not
genetically determined
. In human being, the sex of the individual is largely genetically determined. In other words,
the genes inherited from our parents decide whether we will be boys or girls.
SEX DETERMINATION IN HUMAN BEINGS
Human beings have 23 pairs of chromosomes in the nucleus of the cell. Out of this two
chromosomes are sex chromosomes X and Y. The female has two X chromosomes (XX) and male
has one X and one Y chromosome (XY). The sperms and eggs have one set of sex chromosomes.
Some sperms have X chromosome and some have Y chromosome. All eggs have X chromosome.
If a sperm having X chromosome fuses with an egg having X chromosome the child will be a girl. If a
sperm having Y chromosome fuses with an egg having X chromosome the child will be a boy.

Variations may or may not help organisms to survive a)

Some variations help organisms to survive :-Eg:- There are some red beetles living in green bushes.
They increase their numbers by reproduction. Crows can easily see the red beetles and they are
eaten by the crows. During reproduction due to some variation some green beetles are produced
instead of red beetles. The green beetles are not visible to crows.
not eaten by them. Then gradually the population of the red beetles decreases and the population
of the green beetles increases. This variation has helped the organisms to survive.
b) Some variations do not help organisms to survive :-
Eg:- During sexual reproduction a colour variation occurs in red beetles and some blue beetles are
produced instead of red beetles. Both the red and blue beetles are visible to crows and are eaten by
them. Then the population of both red and blue beetles decreases. This variation has not helped the
organisms to survive
c) Aquired traits cannot be passed from one generation to the next :-Eg:- If the population of
beetles increases and plants are affected by diseases, then the food available for the beetles
decreases and their body weight also decreases. If after a few years the availability of food
increases then the body weight of the beetles also increases. This acquired trait cannot be passed
from one generation to the next because there is no change in their genetic composition.
Speciation:- (Formation of new species from existing species) The formation of new species from
existing species is mainly due to one or more of the following factors. They are :- Accumulation of
variations, Physical barriers, Genetic drift, Natural selection and migration.
i) Accumulation of variations:- The differences between the individuals of the same species is called
variations. The accumulation of variations over several generations produce new species.
ii) Physical barriers :- Populations may get separated by physical barriers like mountains, rivers,
lakes etc. These isolated groups produce variations which can produce new species. iii) Genetic
drift :- Natural calamities or introduction of new members of the same species in an area can
produce changes in the gene pool of the population and new variations are produced which can
produce new species.
iv) Natural selection :- Only those individuals of a species which have useful variations and can
adapt to the changes in the environment survive and the others die. These organisms can produce
variations and new species.
v) Migration:- Some individuals of a species may migrate to a new geographical area and adjust to
the changes in the environment there and develop new variations and produce new species.