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Mutations: Types, Causes, and Effects on Organisms

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This document provides a comprehensive overview of mutations, including their types, causes, and effects on organisms. It covers gene mutations, chromosome mutations, and various classification schemes, as well as the phenotypic effects of mutations and their significance in biology and medicine.

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Mutation and its types

Mutation is a process that produces a gene or chromosome that differs from

the wild type. The mutation may result due to changes either on the gene or the

chromosome itself.

Thus, broadly mutation maybe:

1. Gene mutation where the allele of a gene changes.




2. Chromosome mutation where segments of
chromosomes, whole chromosomes, or

entire sets of chromosomes change.


Types of Mutations

There are various schemes for classification of different kind of mutations. Depending on:

A. The Type of Cell Involved

1. Somatic mutations

• Mutations that are in the somatic tissues of the body.

• Mutations are not transmitted to progeny.

• The extent of the phenotypic effect depends upon whether the mutation is dominant or

recessive (dominant mutations generally have a greater effect).

• The extent of the phenotypic effect depends upon whether it occurs early or late in

development (early arising mutations have a greater effect).


Germinal mutations

, • Mutations that are in the germ tissues of the body.

• Mutations may be transmitted to progeny

• Dominant mutations are seen in first generation after the mutation occurs

• If a female gamete containing an X-linked mutation is fertilized, the males will show

the mutant phenotype

• Recessive mutations will only be seen upon the chance mating with an individual

carrying the recessive allele too; thus, the recessive mutation may remain hidden for

many generations

B. Mode of Origin

(1) Spontaneous mutations

The spontaneous mutations occur suddenly in the nature and their origin is unknown. They

are also called “background mutation” and have been reported in many organisms such as,

Oenothera, maize, bread molds, microorganisms (bacteria and viruses), Drosophila, mice,

man, etc.

(2) Induced mutations

Besides naturally occurring spontaneous mutations, the mutations can be induced artificially

in the living organisms by exposing them to abnormal environment such as radiation, certain

physical conditions (i.e., temperature) and chemicals.

C. Direction of Mutation

According to their mode of direction following types of mutations have been recognised:

1. Forward mutations

In an organism when mutations create a change from wild type to abnormal phenotype, than

that type of mutations are known as forward mutations. Most mutations are forward type.

2. Reverse or back mutations

The forward mutations are often corrected by error correcting mechanism, so that an

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