Gene Mutation

What is gene mutation?

Genes are segments of DNA (deoxyribonucleic
acid) located on chromosomes.
A gene mutation is defined as an alteration in the
sequence of nucleotides in DNA. This change can
affect a single nucleotide pair or larger gene
segments of a chromosome.
 How common are mutations?

• Mutations occurs at a frequency of about 1 in

every 1 billion base pairs
• Everybody has about 6 mutations in each cell in
their body
If I have that many mutations, why don’t I look
weird?
Mutations are not always seen. The affected gene
may still function.

Mutations may be harmful

Mutations may be beneficial
Mutations may have no effect on the organism
 How do mutations affect a population?

• Mutations are major source of genetic variation in

population increasing biodiversity.
• Some variations may help them to survive better.
 How are mutations inherited?
• Only mutations in gametes (egg cell and sperm
cell) are passed onto offspring.
• Mutations in body cells only affect the organisms
in which they occur and are not passed onto
offspring.
 Types of Mutation

1. Missense mutation
2. Nonsense mutation
3. Insertion
4. Deletion
5. Duplication
 Missense Mutation
• 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
 Achondroplasia
• Improper development
of cartilage on the end
of long bones of arms
and legs resulting in a
form of dwarfism
 Nonsense Mutation
• 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.
Muscular Dystrophy
• Muscular dystrophy is a
group of diseases that cause
progressive weakness and
loss of muscle mass. In
muscular dystrophy,
abnormal genes (mutations)
interfere with the
production of proteins
needed to form healthy
muscle
 Insertion
• Changes the number of DNA
bases in a gene by adding a
piece of DNA. The protein
made by the gene may not
function properly.
 Crohn’s Disease
• Chronic inflammation
of the intestinal tract,
producing frequent
diarrhea, abdominal
pain, nausea, fever and
weight loss.
 Deletion
• One or more bases
is removed from the
nucleotide
sequence, the
protein made by the
gene may not
function properly.
 Cystic Fibrosis
• Characterized by
abnormally thick mucus
in the lungs, intestines
and pancreas
 Duplication
• Consists of a piece of
DNA that is
abnormally copied
one or more times.
This type of mutation
may alter the function
of the resulting
protein.
Charcot-Marie-Tooth Disease
• The disease is named for the three
physicians who first identified it in
1886 - Jean-Martin Charcot and
Pierre Marie and Howard
Henry Tooth.
• Damage to peripheral nerves
leading to weakness and atrophy of
muscles in hands and lower legs.
 What causes mutation?
• DNA fails to copy accurately
Most of the mutations that we think matter to evolution are "naturally-
occurring." For example, when a cell divides, it makes a copy of its DNA —
and sometimes the copy is not quite perfect. That small difference from the
original DNA sequence is a mutation.
• External influences can create mutations
Mutations can also be caused by exposure to specific chemicals or radiation.
These agents cause the DNA to break down. When the cell repairs the DNA,
it might not do a perfect job of the repair. So the cell would end up with
DNA slightly different than the original DNA and hence, a mutation.