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Mutation and Its
Types
PRESENTED BY
ISHITA CHAKRABORTY
REG. NO. – RA2332001010095
Mutation and its types
• Mutation affects the genetic sequence
of organism, causing genetic variation.
• It affect gene and cellular function of
organism.
• Mutations can have no effect or
beneficial effect or harmful effects.
• When mutation occurs in exon, it
affects the formation of functional
protein.
• When they occur in non-coding
sequences they affect regulatory
function.
Mutation
Types :-
Based on
Origin
Cell Types
Involved
Direction
of
Mutation
Phenotypic
Effects
1. Based on Origin
Spontaneous Mutation Induced Mutation
2.
Based on Cell
Types
Involved
Somatic Cell
Mutation
• Occurs in somatic cell
• Can’t be transmitted to
the progeny.
Germline Mutation
• Occurs in germline cell
that produce gametes.
• Effect can be
transmitted to the next
generation.
3. Based on the
Direction
Forward
Mutation
Mutation
that causes
change from
normal wild
type to
abnormal
mutant
phenotype.
Reverse
Mutation
Mutation
that causes a
change from
abnormal
mutant
phenotype
to normal
wild type.
4.
Based on
Phenotypic
effect
Loss of
Function
• The mutation
results in the
formation of a
gene product
that is non-
functional or
lost its
function.
• Results in
recessive
phenotype.
Gain of
function
• Mutation
results in the
formation of a
gene product
that has
enhanced
function or a
new trait.
• It results in
dominant
phenotype.
Lethal
Mutation
• The
mutation
affects the
viability of
the
organism.
Conditional
Mutation
• Mutation
can be
expressed
only at
certain
conditions.
Gene Mutation (Based on Type)
Gene
Mutation(based
on type)
Substitution
One nucleotide is substituted
with another.
Transition
It is the substitution of purine or
pyrimidine from another purine
or pyrimidine base.
(C  T or A  G)
Transversion
It is the substitution of a
purine from a pyrimidine or
vice versa.
Insertion
Addition of a nucleotide.
ATGCACG --- Normal
ATTGCACG --- Mutation
Deletion
A single nucleotide is deleted.
ATGCACG --- Normal
AGCACG --- Mutation
Gene Mutation (Based on effect)
Silent Mutation
Change in third
nucleotide of a
triplet, leading to
exchange in
product.
Missense
Mutation
Change in the first
or second or both
nucleotide of
triplet codon,
leading to the
change of amino
acid product.
Nonsense
Mutation
Introduction of
the stop codon,
resulting in the
early termination
of the protein
molecule.
Frameshift
Mutation
Insertion or
deletion of a
nucleotide, that
results in altering
the reading frame.
Chromosomal Mutation
Deletion
A segment of
chromosome is
deleted.
Duplication
A segment of
chromosome is
duplicated and
deleted.
Inversion
The orientation of
the chromosomal
segment is altered.
Translocation
Part of chromosome
is translocated and
integrated with
another chromosome.
Thank You

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Gene Mutation its types and importance of mutation

  • 1. Mutation and Its Types PRESENTED BY ISHITA CHAKRABORTY REG. NO. – RA2332001010095
  • 2. Mutation and its types • Mutation affects the genetic sequence of organism, causing genetic variation. • It affect gene and cellular function of organism. • Mutations can have no effect or beneficial effect or harmful effects. • When mutation occurs in exon, it affects the formation of functional protein. • When they occur in non-coding sequences they affect regulatory function.
  • 3. Mutation Types :- Based on Origin Cell Types Involved Direction of Mutation Phenotypic Effects
  • 4. 1. Based on Origin Spontaneous Mutation Induced Mutation
  • 5. 2. Based on Cell Types Involved Somatic Cell Mutation • Occurs in somatic cell • Can’t be transmitted to the progeny. Germline Mutation • Occurs in germline cell that produce gametes. • Effect can be transmitted to the next generation.
  • 6. 3. Based on the Direction Forward Mutation Mutation that causes change from normal wild type to abnormal mutant phenotype. Reverse Mutation Mutation that causes a change from abnormal mutant phenotype to normal wild type.
  • 7. 4. Based on Phenotypic effect Loss of Function • The mutation results in the formation of a gene product that is non- functional or lost its function. • Results in recessive phenotype. Gain of function • Mutation results in the formation of a gene product that has enhanced function or a new trait. • It results in dominant phenotype. Lethal Mutation • The mutation affects the viability of the organism. Conditional Mutation • Mutation can be expressed only at certain conditions.
  • 8. Gene Mutation (Based on Type) Gene Mutation(based on type) Substitution One nucleotide is substituted with another. Transition It is the substitution of purine or pyrimidine from another purine or pyrimidine base. (C  T or A  G) Transversion It is the substitution of a purine from a pyrimidine or vice versa. Insertion Addition of a nucleotide. ATGCACG --- Normal ATTGCACG --- Mutation Deletion A single nucleotide is deleted. ATGCACG --- Normal AGCACG --- Mutation
  • 9. Gene Mutation (Based on effect) Silent Mutation Change in third nucleotide of a triplet, leading to exchange in product. Missense Mutation Change in the first or second or both nucleotide of triplet codon, leading to the change of amino acid product. Nonsense Mutation Introduction of the stop codon, resulting in the early termination of the protein molecule. Frameshift Mutation Insertion or deletion of a nucleotide, that results in altering the reading frame.
  • 10. Chromosomal Mutation Deletion A segment of chromosome is deleted. Duplication A segment of chromosome is duplicated and deleted. Inversion The orientation of the chromosomal segment is altered. Translocation Part of chromosome is translocated and integrated with another chromosome.