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Gene Mutation

Presentated by:
•Abida khan
•Shumaila Gull
•Mehwish Rahman
Topic to be covered:
• What is gene mutation?
• How common are mutations?
• If I have that many mutations, why do not I
look weird?
• How do a mutation affect a population?
• Causes of gene mutation
• Types of mutation
• conclusion
What is gene mutation?

• A gene mutation is a permanent alteration in the DNA sequence that


makes up a gene, such that the sequence differs from what is found in the
most people.
How common are gene mutations?
• Mutations occurs at a frequency of about 1 in
every 1 billion base pairs.
• Everybody has about 6 mutation in each cell in
their body.
If I have hat many mutations, why don't I
look weird?
• Mutations are not always seen. The affected
gene may still function.
• Mutation may be harmful.
• Mutation may be beneficial.
• Mutation may have no effect on the
organism.
How do mutations affect a population?

• Mutations are a major source of genetic


variation in a population increasing
biodiversity.
• Some variation may help them to survive
better.
Causes of mutation
• Four classes of mutations are
(1) spontaneous mutations (molecular decay).
(2) mutations due to error-prone replication
bypass of naturally occurring DNA damage
 (also called error-prone translation synthesis).
(3) errors introduced during DNA repair.
(4) induced mutations caused by mutagens.
Types of mutation
• Point mutation
• Subsitution

• framshift
Point mutation
• A point mutation or substitution is a genetic
mutation where a single nucleotide base is
changed.
• There are three types of point mutation:
1. Silent
2. Miss sense
3. Non sense
Point mutation types
substitution
Frame shift mutation
• Also know as frame error
• 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. ...
Therefore, frameshift mutations result in
abnormal protein products with an incorrect
amino acid sequence that can be either longer
or shorter than the normal protein.
Frame shift muation
Classification of mutation on basis of affected
cell:
On the basis of the cell affected mutation can be
divided as:
• Somatic cell mutation: when there is a change
in DNA sequence of a somatic or non-
reproductive cell.
• Germinal cell mutation: when there is
mutation in the reproductive cells like gonads.

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