MUTATION &

DNA REPAIR
Group members
NGUYEN THI LAM ANH - BTBTIU21037
NGUYEN TIEN THANH - BTBTIU21246
VO HO PHUONG VY - BTBTIU20250
 WHAT IS A MUTATION?

A mutation is a change in The four nucleotides are:

Adenine (A)
the sequence of bases in
Cytosine (C)
DNA or RNA (sequence of
Guanine (G)
nucleotides). Thymine (T)
SOMATIC AND
GERMLINE
MUTATION
Somatic Mutations

Germline Mutations
TYPES OF GENE
MUTATIONS
(Based on molecular nature)
BASE SUBSTITUTIONS

INSERSIONS AND DELETIONS

 BASE SUBSTITUION
TRANSITION TRANSVERSION
MUTATION MUTATION
interchanges of two-ring interchanges of purine for
purines (A =>G), or of one- pyrimidine bases, which
ring pyrimidines (C =>T), therefore involve
they therefore involve bases exchange of one-ring &
of similar shape two-ring structures
Base substitution
 Insertion and deletions

Frameshift In-frame
result from the insertion or deletion of involve the insertion or deletion of
nucleotides in a DNA sequence that is not nucleotides in a DNA sequence that is
divisible by three (not in multiples of three). divisible by three (in multiples of three).
TYPES OF MUTATIONS
POINT MUTATION
Point mutations are like small spelling mistakes that
affect only one in our DNA code.

For example, a G
A single base pair may be added, deleted or changed.
(guanine) might be
swapped for a C
(cytosine).
 TYPES OF MUTATIONS
PHENOTYPIC EFFECTS
OF MUTATIONS
Forward mutation Wild-type Mutant
vs
Reverse mutation Mutant Wild-type
Reverse mutation

TRUE REVERTANT
Missense A base substitution that results in a
mutation different amino acid in the protein

Nonsense changes a sense codon (specifies an

mutation amino acid) into a nonsense codon
(terminates translation)
 Silent changes a codon to a synonymous codon
mutation that specifies the same amino acid

Neutral a missense mutation that alters the

mutation amino acid sequence of the protein
but does not change its function
TYPES OF MUTATIONS
- PHENOTYPIC EFFECTS OF MUTATIONS
Loss-of-function mutations.
Loss-of-function (inactivating) mutations: the function of the mutated gene
becomes impaired or completely lost.
The null allele The wholly or partial absence of ordinary protein function.

The mechanisms:
Alter the structure of the protein the protein no longer works correctly.
The mutation can occur in regulatory regions.
Loss-of-function mutations are frequently recessive.
 The enhancements of the gene functions

Produces an entirely new trait

Gain-of-function
mutations.
Causes a trait to appear in an
inappropriate tissue

Frequently dominant in their expression.

EX: A mutation in a gene that encodes a receptor for a growth factor might cause the mutated
receptor to stimulate growth even in the absence of the growth factor.
Conditional
Expressed only under a defined set of
conditions (restrictive environmental
mutation: condition).

Under other environmental conditions

(permissive environmental conditions),
exhibiting the wild-type phenotype.
Example of conditional
mutation
Lethal mutation:
Capable of influencing the viability of the organism.
Lethal mutation under certain environmental condition conditional lethal
mutation.
 Suppressor mutation
Induces the effects that hides or suppresses another mutant effect.

Intragenic

CLASSIFICATION

Intergenic
 Intragenic:
The two mutation is in the same gene

Alter, add or delete one or more nucleotides rehabilitate the

former reading frame or codons

Generate the compensatory adjustments in the mutated protein

 Intergenic:

RELIES ON THE
COMPENSATORY
TRANSPIRES IN A GENE
INTERACTIONS
OTHER THAN THE ONE
BETWEEN THE
BEARING THE
PRODUCTS OF THE TWO
SUPPRESSED MUTATION
GENES INVOLVED IN
THE SUPPRESSION
Mutation always expresses into phenotype?

MAY BE SILENT
MUTATIONS

OCCUR IN
NON- CAN BE
FUNCTIONAL SUPPRESSED
REGIONS
 Some Key Points
Whether cancer is an inheritable disease & always inherits?
Cancer and the variation in the tumor cells cannot actually be transmitted
Only genetic changes increasing the risk of cancer can be passed on from
parents to childs by germline mutation - called inherited cancer gene faults.
A baby inheriting a cancer gene fault doesn’t mean that the child will
definitely get cancer.

CANCER IS NOT DEFINED AS AN INHERITABLE DISEASE AND IS NOT ALWAYS

INHERITED.
 REFERENCES
Palmer, L. (2020, January 3). Adaptive Loss-of-Function mutations. Plantae.
Aryal, S. (2023). What are the types of Mutations? Microbe Notes.
Chauhan, T. (2022). Genetic Mutations- definition, types, causes and examples. Genetic
Education.
The genetics of cancer. (2022, August 17). National Cancer Institute.
Cancer Research UK. (2021, November 1). Family history and inherited cancer genes.
Frank, S. A. (2007). Inheritance. Dynamics of Cancer - NCBI Bookshelf
Dr.Samanthi. (2019, December 22). Difference between forward and reverse mutation.
Compare the Difference Between Similar Terms.
Pierce, B.A., 2012. Genetics: A Conceptual Approach, 4th Ed.
Snustad, D. Peter and Simmons, Michael J, 2011. Principles of Genetics, 6th Ed.
Brooker, R. J. (2018). Genetics: Analysis and Principles, 6th Ed.