MUTATION

Term mutation was given by De vries in 1901.

Any sudden change occurring in hereditary material is called as mutation. • They may be harmful,
beneficial or neutral.

A mutation is defined as an inherited change in genetic information.

The physical and chemical agent that caused mutation is known as mutagen.

TWO TYPES OF MUTATION OCCURS IN NATURE

1. SOMATIC MUTATIONS
• Arise in the somatic cell. Passed on to other cells through the process of mitosis.
2. GERM LINE MUTATION-
They occur in the cells that produce gametes. Passed on to future generations

On the basis of causative agent types of mutations

Spontaneous mutations: Mutations that result from natural changes in DNA. Depurination and
deamination are two common chemical event that produces spontaneous mutation.

Induced mutations: Results from changes caused by environmental chemicals & radiations. Any
environmental agent that increases the rate of mutation above the spontaneous is called a mutagen
such as chemicals & radiations.

Types of mutations
1. Chromosomal aberrations
Large sections of chromosomes can be  altered or shifted leading to changes in  the 
way the genes on them are expressed. Chromosomal mutations include:
Translocation :
The interchange of large segments of DNA  between two different chromosomes
Inversion :
Occur when a region of DNA flips its  orientation with respect  the rest of the  chromosome.
Deletion :
A large regions of a chromosome may be  deleted, leading to loss of some genes.
Non‐disjunction:
3 Sometimes a chromosome can lose track of  where it is supposed to go in cell division.
One of the daughter cells will end up with  more or less than its share of DNA.

2. Gene mutations
A genetic mutation is a change in a sequence of your DNA. 

Point Mutation : It involves a single changed base pair. It is further classified as,

1. Base Substitution: In substitution mutations, a nucleotide with a different nitrogen base

replaces a nucleotide in the DNA. When a purine is replaced by purine or pyrimidine by
pyrimidine it is called transition. If a purine is replaced by pyrimidine or vice versa it is
called transversion. Based on the consequence of the change they are classified as
Silent mutation : No change will take place in the amino acid sequence of protein.
 Missense Mutation: This leads to formation of non functional polypeptide.
2. Frameshift Mutation :
A frameshift mutation is a genetic mutation caused by a deletion or insertion in a DNA
sequence that shifts the way the sequence is read.

The physical and chemical agent that caused mutation is known as mutagen.

Chemical mutagen - Alkylating agent , Base analogs , Methylating agent, DNA intercalating
agent, DNA crosslink agent, Reactive oxygen species (ROS).
Alkylating agent :These are naturally occuring and human made highly reactive chemicals
that alter the structure of DNA and cause mutations. e.g. Ethylmethane sulphonate(EMS) and
mustard gases, MMS.
Base analogs • Base analogs are bases that are similar to those normally found in DNA . • The
base analogs pair with a different base in DNA. • One base analog mutagen is 5- bromouracil.
Deaminating agents: Nitrous acid is a mutagenic agent that brings about deamination of
bases. Deamination converts cytosine to uracil, which pairs with adenine.

Physical mutagen:- Uv radiation, Ionising radiation

Radiation
• Radiation occurs in non-ionizing or ionizing forms.
• Ionization occur when energy is sufficient to knock an electron out of an atomic shell and
break covalent bonds.
• Except for UV light ,non ionizing radiation does not induce mutations.
• But all forms ionizing radiation ,such as X rays, cosmic rays and radon can induce mutation.
Effect of UV radiation
• UV radiation promotes the formation of covalent bonds between adjacent thymine residue in
a DNA strand ,creating a cyclobutyl ring.
• They form abnormal chemical bond between adjacent pyrimidine molecule (mainly thymine)
in the same strand of the double helix.

Ionizing radiation penetrates tissue, colliding with molecules and knocking electrons out of
orbits ,creating ions.
• The ion can result in the breakage of covalent bonds, including those in the sugar phosphate
back bone of DNA.
• Ionizing radiation is the leading causes of gross mutation in humans.
• High dosages of ionizing radiation kill cells so use in treating some form of cancer.