Principles of Inheritance And Variation

First and Second Laws of Inheritance

Gregor Johann Mendel carried out several hybridization experiments with true-breeding
pea lines which had sharply contrasting characters.

A monohybrid cross is the study of inheritance of one pair of contrasting characters.

The Law of Dominance states that in a monohybrid, pure line cross between parents
with contrasting traits, the dominant from appears in the F1 generation and both forms
appear in a ratio of 3:1 in the F2 generation.

The Law of Segregation states that alleles do not show any blending but segregate from
each other during gamete formation into different gametes.

Punnett Square is a graphical representation that helps calculate the probability of all
possible genotypes of the progeny in a genetic cross.

A test cross is a cross between individuals if the F1 generation and a homozygous

recessive parent to determine the genotype of an individual.

Chromosomal Disorders

Chromosomal disorders are caused due to changes in chromosomal number or

chromosomal structure.
Changes in chromosomal number occur due to non-disjunction of chromosomes or
failure of chromatids to disjoin during cell-division.

Aneuploidy is a condition where one or more chromosomes are either gained or lost.

Euploidy is a ployploidic condition where more than two haploid sets of chromosomes
are formed due to the failure of cytokinesis after the telophase stage.

Some chromosomal disorders that occur due to changes in chromosomal number

include Down’s Syndrome, Klinefelter’s Syndrome and Turner’s Syndrome.

Some of the structural changes in chromosomes include deletion, duplication and

translocation.

Structural changes in a chromosome are inherited or occur accidentally when

reproductive cells are being formed.

Incomplete Dominance

Mendel’s laws were not universal in occurrence.

The phenomenon where a dominant allele does not completely mask the phenotypic
expression of the recessive allele in a heterozygote, resulting in a blending of both
dominant and recessive traits in the F1 and F2 heterozygotes, is called incomplete
dominance.

In incomplete dominance, both the genotypic and phenotypic ratios are 1:2:1.

Incomplete dominance causes a distortion of the normal phenotypic ratio.

Co- Dominance

Co-dominance is a situation where a heterozygous organisms has a phenotype that

demonstrates traits from both dominant as well as recessive genes.

A co-dominant trait is not blended but is independently and equally expressed.

According to the multiple alleles concept, more than two alleles govern the same
character.

Dominance is not an autonomous feature of a gene or gene product.

Dominance, incomplete dominance or co-dominance depends on gene product and the

production of a particular phenotype from this product.

Dominance, incomplete dominance or co-dominance also depends on the phenotype

that we wish to examine in case the same gene influences more than one phenotype.

Dihybrid Cross

A cross between plants that differ in two traits or characters is known as a dihybrid
cross.

The Law of Independent Assortment states that when two pairs of traits or characters
are united in a hybridization experiment, the segregation of one pair of characters is
independent of the other pair of characters.

In a dihybrid cross, the genes assort independently.

Chromosomal Theory of Inheritance

Mendel’s work did not receive due recognition until the beginning of the 20th century.

Theodore Boveri and Walter Sutton’s hypothesis came to be known as the Boveri-
Sutton Chromosome Theory.

Both Sutton and Boveri were of the opinion that pairing and separation of a pair of
chromosomes would result in the segregation of a pair of genes or factors carried by
them.

Sutton combined the hypothesis of chromosomal segregation and Mendelian principles

and called it the Chromosomal Theory of Inheritance.

Linkage, Crossing-Over and Recombination

Thomas Hunt Morgan and his colleagues tried to verify the Chromosomal Theory of
Inheritance through various experiments.

For two genes lying on the same chromosome, the proportion of parental gene
combinations is much higher than non-parental gene combinations or recombinant
types.

Genes that are located on the same chromosome and that are inherited together are
known as linked genes.

The process where chromatids of a homologous pair exchange segments between them
is known as crossing-over.

The likelihood of two genes separating during crossing-over is proportional to the

distance between them.
Morgan and his group explored the arrangement of genes on a chromosome and also
discovered the exception to Mendel’s Law of Independent Assortment, when linked
genes are considered.

Sex Determination

Sex-determination chromosome are called sex chromosome while the rest of the
chromosomes are called autosomes.

Of the 23 pairs of chromosomes in human beings, just one pair is the sex chromosome
while the remaining 22 pairs are autosomes.

The very first indication that sex chromosomes were different from autosomes came
from experiments conducted by German biologist Hermann Henking in 1891.

The four important types of sex-determination systems are the XX-XY type, XX-XO
type, ZW-ZZ type and the ZO-ZZ type.

A system of sex determination where the genetic make-up of the sperm determines the
sex of the offspring is known as male heterogamety.

A system of sex determination where the genetic make-up of the ovum determines the
sex of the offspring is known as female heterogamety.

Pedigree Analysis and Mutation

A hereditary disorder is a condition that is genetically passed on to one’s offspring.

Pedigree analysis plays a very important role in tracing the inheritance of abnormal
traits.

A pedigree analysis involves using a pedigree chart with standard symbols to represent
the inheritance of a particular trait.

Mutation in genetic material leads to changes in the genotype and phenotype of an

organism.

Physical and chemical factors responsible for changing the genetic structure or for
inducing mutations are known as mutagens.

Mendelian Disorders

Genetic disorders are of two types, Mendelian disorders and chromosomal disorders.

Mendelian disorders include genetic disorders caused by alterations or mutations in a

single gene.

Chromosomal disorders include genetic disorders caused by an excess, absence or

abnormal arrangement of chromosomes.

Mendelian disorders are caused due to mutations in normal genes, where the genes
follow the Law of Mendelian Inheritance.

Cystic fibrosis, haemophilia, thalassaemia, sickle cell anaemia and phenylketonuria are
some Mendelian disorders.
Introduction to Genetics

Inheritance is the process of passing characters from parents to offspring.

Variation is the degree by which an offspring differs from its parents.

Advances in field of genetics were made by Gregor Johann Mendel in the mid-19th
century.

Gregor Mendel proposed several laws of inheritance by conducting extensive research

and hybridisation experiments on garden peas for about seven years.

Hybridisation is the process of crossing two individual differing in at least one

character, resulting in a hybrid individual.