Mutation
By
Dr/ Eman Elsaid Khalifa
Mutation
Change in the nucleotide
sequence of DNA
This change may affect:
a single gene or an entire
chromosome
Causes of mutation
Mutations can be caused by several
factors:
Replication errors can cause
mutations
Mutagens, such as UV rays and
chemicals, can cause mutations
Some cancer drugs use mutagenic
properties to kill cancer cells
Mutation
In multicellular organism, 2
broad categories of mutations:
somatic mutations & germ line
mutations
Somatic mutation
Arise in the somatic cells
Passed on to other cells through the
process of mitosis
Effect of these mutations depends
on the type of the cell in which they
occur & the developmental stage of
the organism
If occurs early in development,
larger the clone of the mutated
cells
Germ line mutation
They occur in the cells that
produce gametes
Passed on to future generations
In multicellular organisms, the
term mutation used for germ
line mutations
Types of mutations
Gene mutations
Chromosomal mutations
Gene mutations
A change that affects a gene on
a chromosome causes the cell to
produce abnormal proteins.
There are 2 types of gene
mutations:
I. Point mutation
II. Frame shift mutation
Point mutation
A gene mutation involving only a
single nucleotide
Ex: ACA mutates to read ACT
mRNA codes ACT to be UGA which
is a stop codon
This will cause the necessary
protein to not be made
Frame shift mutation
This is the insertion or deletion
of one or more nucleotides
Ex: CATAT
In a frame shift mutation it would
read ATAT which is meaningless
Types of chromosomal Mutations
I. Deletion
II. Duplication
III. Inversion
IV. Translocation
Deletion
A part of a chromosome is missing
Duplication
Doubling of a segment of a
chromosome
Types of duplication
Inversion
A segment of a chromosome is
excised and then reintegrated in
an orientation 180 degrees from
the original orientation.
Types of inversion
Translocation
Involves two chromosomes
that aren’t homologous
Part of one chromosome is
transferred to another
chromosomes
Types of translocation
Chromosomal Mutations
Animation
Consequence of Mutations
Most mutations are minor
Many are harmful
Some are lethal
A few may be helpful
Thank you