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Mutation and Its Types

Gene mutations can occur through point mutations, frameshift mutations, deletions, insertions, and other changes. Point mutations involve a single nucleotide change and can be silent, nonsense, or missense. Frameshift mutations alter the reading frame. Deletions and insertions change the number of DNA bases. Chromosome mutations include deletions, duplications, inversions, and translocations, which rearrange portions of chromosomes. The effects of mutations depend on where they occur and whether they alter essential protein function.

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Dr.Noman Asghar
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47 views21 pages

Mutation and Its Types

Gene mutations can occur through point mutations, frameshift mutations, deletions, insertions, and other changes. Point mutations involve a single nucleotide change and can be silent, nonsense, or missense. Frameshift mutations alter the reading frame. Deletions and insertions change the number of DNA bases. Chromosome mutations include deletions, duplications, inversions, and translocations, which rearrange portions of chromosomes. The effects of mutations depend on where they occur and whether they alter essential protein function.

Uploaded by

Dr.Noman Asghar
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Types of Mutation

DR.NOMAN ASGHAR
⚫ A mutation is a change that occurs in our DNA
sequence, either due to mistakes when DNA is
copied or as the result of environmental factors such
as UV light.

⚫ The DNA sequence of a gene can be altered in a


number of ways.

⚫ Gene mutations have varying effects on health,


depending on where they occur and whether they
alter the function of essential proteins.
Types of
Mutation

Gene Mutation
Chromosome Mutation
Point mutation
A point mutation or substitution is a genetic mutation
where a single nucleotide base is changed, inserted or
deleted from a sequence of DNA or RNA.
Silent mutations
Silent mutations are mutations in DNA
that do not have an observable effect
on the organism's phenotype. They
are a specific type of neutral
mutation.
Nonsense mutation
⚫ A nonsense mutation is also a change in one DNA
base pair.

⚫ Instead of substituting one amino acid for another,


however, the altered DNA sequence prematurely
signals the cell to stop building a protein.

⚫ This type of mutation results in a shortened protein


that may function improperly or not at all.
Missense mutation

⚫ Thistype of mutation is a change in one DNA


base pair that results in the substitution of one
amino acid for another in the protein made by a
gene.
CONSERVATIVE MISSENSE
In a conservative missense
mutation, the amino acid replaced
is SIMILAR in function and shape
to the amino acid being replaced
NON-CONSERVATIVE
MISSENSE MUTATION
A non-conservative missense mutation
is a type of missense mutation where
the alteration in nucleotide causes the
formation of a completely DIFFERENT
kind of amino acid in the chain
Frameshift mutation
⚫ This type of mutation occurs when the addition or
loss of DNA bases changes a gene's reading frame.

⚫ A reading frame consists of groups of 3 bases that


each code for one amino acid.

⚫ A frameshift mutation shifts the grouping of these


bases and changes the code for amino acids.

⚫ The resulting protein is usually nonfunctional.

⚫ Insertions, deletions, and duplications can all be


frameshift mutations.
Deletion
⚫ A deletion changes the number of DNA bases by
removing a piece of DNA.

⚫ Small deletions may remove one or a few base pairs


within a gene, while larger deletions can remove an
entire gene or several neighboring genes.

⚫ The deleted DNA may alter the function of the


resulting protein(s).
Insertion
⚫An insertion changes the number of DNA
bases in a gene by adding a piece of DNA.

⚫As a result, the protein made by the gene may


not function properly.
Chromosome
Mutation

Deletion Duplication

Inversion Translocation
Chromosome mutation
• A chromosome mutation is an unpredictable
change that occurs in a chromosome.

• These changes are most often brought on by


problems that occur during meiosis (division process
of gametes) or by mutagens (chemicals, radiation,
etc.).
Deletion
⚫A small-scale type of deletion mutation
is one in which one or more nucleotides
are lost or deleted from the chromosome
⚫ A type of mutation in which a portion of a genetic
material or a chromosome is duplicated or replicated,
resulting in multiple copies of that region.

⚫ Duplication results from an unequal crossing-over


between misaligned homologous chromosomes
during meiosis
Inversion Mutation
⚫ If two breaks occur in one chromosome, sometimes the region
between the breaks rotates 180 degrees before rejoining with the
two end fragments.

⚫ Such an event creates a chromosomal mutation called an inversion.


Translocation mutation
⚫ Translocation mutations take place when a portion
of a chromosome is relocated.

⚫ The genes from one chromosome can move to


another position on the same chromosome;
alternatively, they can become incorporated into a
different chromosome.

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