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.
