MG - L4 - Mutation & Dna Repair - Part 1
MG - L4 - Mutation & Dna Repair - Part 1
MG - L4 - Mutation & Dna Repair - Part 1
DNA REPAIR
Group members
NGUYEN THI LAM ANH - BTBTIU21037
NGUYEN TIEN THANH - BTBTIU21246
VO HO PHUONG VY - BTBTIU20250
WHAT IS A MUTATION?
Germline Mutations
TYPES OF GENE
MUTATIONS
(Based on molecular nature)
BASE SUBSTITUTIONS
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
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
Gain-of-function
mutations.
Causes a trait to appear in an
inappropriate tissue
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).
Intragenic
CLASSIFICATION
Intergenic
Intragenic:
The two mutation is in the same gene
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.