Life at Molecular, Cellular and Tissue Level

Genetic, Change and Continuity

Principles of Inheritance and Variation

Certain people resemble their parents a lot. They look very similar to them. They’ve inherited
their genes. But what exactly are the Principles of Inheritance and Variation? What are
Genetics? Do you know what Mutation and Chromosomal Disorder are? What is Sex
Determination

How is it possible that you look like your mother and have your father’s characteristics? What
makes siblings look and perhaps behave similarly? Genetics and heredity!

Genetics is defined in many ways. It is defined as the study of genes, genetic code heredity, and
variations thereof. It is that field of biology that describes how characteristics and features pass
on from the parents to their offspring in each successive generation. The unit of heredity is
known as genes. Before we understand more about genetics, we need to understand what the
genetic materials are.

Introduction to Genetics

There are two classes of genetic materials that are responsible for the transfer of information
from one generation to another in animals:

• DNA or deoxyribonucleic acid

• RNA or ribonucleic acid

It is in the DNA or RNA sequences that biological information is stored and passed on.

DNA

Most organisms contain DNA except some viruses which contain RNA as their genetic material.
DNA was discovered by two scientists- Watson and Crick and their model of the structure of
DNA are called the Watson and Crick model. The structure of DNA is said to be a double- helical
structure with two strands of DNA that are wound around each other. Each strand of DNA is
made up of a sequence of nucleotide monomers. Each nucleotide is made up of:

• Deoxyribose sugar

• One of the four nitrogen bases

• Phosphate group
The nitrogen bases found in a DNA molecule are Adenine, Thymine, Cytosine, and Guanine.
The nucleotides create a chain via covalent bonds that are formed between the phosphate of
one nucleotide and the sugar of the adjacent one. The two strands of DNA are held together by
hydrogen bonds between complementary nitrogen bases i.e. Adenine with Thymine and
Cytosine with Guanine.

A DNA molecule is said to be stable enough to be able to replicate itself. DNA

replication involves RNA intermediates. The part of the DNA which codes for specific proteins
during the replication is called as the gene.

RNA

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Unlike the DNA, RNA is a single-stranded genetic material. The nucleotide bases present in RNA
are similar to those in DNA except that thymine is replaced by uracil and pairs with adenine.
While DNA is the genetic material in most organisms, RNA is found in a few viruses. RNA is of
three types depending on their function:

• tRNA or transfer RNA- helps transfer the amino acids from the mRNA to the ribosomes.

• mRNA or messenger RNA- helps to carry the codes for amino acids from the DNA to the
ribosomes

• rRNA or ribosomal RNA- are found on the ribosomes and help in protein synthesis.
Introduction to Chromosome

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Now that we know what the units of heredity are, let us understand what chromosomes are. The DNA that is
found in the nucleus of each cell occurs as a tightly coiled package around proteins called as histones. These
thread-like packaged structures of DNA are called as chromosomes.

Humans have 23 pairs of chromosomes (or 46 chromosomes). 22 pairs are called autosomes and one pair is called
the sex chromosomes. Females in humans have 2 X(XX) chromosomes whereas males have one X and one Y
(XY) chromosomes. The number of chromosomes varies in different animal species.

Each chromosome is said to be divided into two unequal halves by a centromere into two arms. The short arm is
called as ‘p-arm’ and the longer arm is known as the ‘q arm’.

Genetic Inheritance

Gregor Mendel, a monk, is known as the father of modern genetics. He postulated few laws, known as the Laws of
Inheritance. Mendel’s Laws are:

• Law of Segregation

• The Law of Independent Assortment

• Law of Dominance
With the help of experiments performed on a pea plant(Pisum sativum) and the use of Punnett squares, Mendel
explained heredity and inheritance of characters and laid the foundation of genetic inheritance as we know it
today.
Laws of Inheritance
Gregor Johann Mendel was a scientist who is recognized as the Father and Founder of genetics.
Mendel conducted many experiments on the pea plant (Pisum sativum) between 1856 and
1863. He studied the results of the experiments and deducted many observations. Thus, laws
of inheritance or Mendel’s laws of inheritance came into existence. Before learning about
Mendel’s laws of inheritance, it is important to understand what the experiments performed
by Mendel were.

Mendel’s Experiments on Pea Plant

Mendel after carefully study selected the pea plant for many reasons:

• The pea plants were easy to grow and maintain

• It has many clearly distinct and contrasting characters.

• The pea plant is an annual plant and so many generations of the plant can be studied in
a short period of time.

• Peas are naturally self-pollinating but can also be cross-pollinated.

Mendel made a list of contrasting characters which he studied:

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Mendel structured his experiments in a way that he would observe one pair of contrasting
characters at one time. He began his experiments using purebred lines for contrasting
characters.

He cross-pollinated two pure lines for contrasting characters and the resultant offspring were
called F1 generation(also called the first filial generation). The F1 generations were then self-
pollinated which gave rise to the F2 generation of second filial generation.

Results of Mendel’s Experiments

Let us look at the results of Mendel’s experiments on crossing a pure tall pea plant with a pure
short pea plant.

• In the F1 generation, Mendel observed that all plants were tall. there were no dwarf
plants.

• In the F2 generation, Mendel observed that 3 of the offspring were tall whereas 1 was
dwarf.

• Similar results were found when Mendel studied other characters.

• Mendel observed that in the F1 generation, the characters of only one parent appeared
whereas, in the F2 generation, the characters of the other parent also appeared.

• The characters that appear in the F1 generation are called dominant traits and those
that appear for the first time in the F2 generation are called recessive traits.

Conclusions

• The genes that are passed from the parents to the offspring exist in pairs. These pairs
are called alleles.

• When the two alleles are the same, they are called homozygous. When both the alleles
are different, they are called as heterozygous.

• Dominant characters are described using capital letters and recessive using small letters.
For example, the dominant genes for tallness in a pea plant are written as TT and
recessive genes as tt. The heterozygous genes are written as Tt where the plant appears
tall has the recessive gene which might express itself in the future generations.

• The appearance of the plant is known as the phenotype whereas the genetic makeup of
the plant is called the genotype. So, a plant with Tt genes appears tall phenotypically but
has a recessive gene.

• During gametogenesis, when the chromosomes become half in the gametes, there is a
50% chance of either of the alleles to fuse with that of the other parent to form a
zygote.
 Understand the concept of Sex Determination here in detail.

Based on these observations, Mendel proposed three laws.

Laws of Inheritance

Mendel proposed three laws:

• Law of Dominance

• The Law of Segregation

• Law of independent assortment

Law of Dominance

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This law states that in a heterozygous condition, the allele whose characters are expressed
over the other allele is called the dominant allele and the characters of this dominant allele are
called dominant characters. The characters that appear in the F1 generation are called as
dominant characters. The recessive characters appear in the F2 generation.
Law of Segregation

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This law states that when two traits come together in one hybrid pair, the two characters do
not mix with each other and are independent of each other. Each gamete receives one of the
two alleles during meiosis of the chromosome.

Mendel’s law of segregations supports the phenotypic ratio of 3:1 i.e. the homozygous
dominant and heterozygous offspring show dominant traits while the homozygous recessive
shows the recessive trait.
Law of Independent Assortment

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This means that at the time of gamete formation, the two genes segregate independently of
each other as well as of other traits. Law of independent assortment emphasizes that there are
separate genes for separate traits and characters, and they influence and sort themselves
independently of the other genes.

This law also says that at the time of gamete and zygote formation, the genes are
independently passed on from the parents to the offspring.