Gene mutations are alterations in DNA nucleotide sequences that can result in non-functioning proteins. There are two main types of mutations: hereditary mutations inherited from parents that are present throughout life, and acquired mutations that occur during life and are present in only certain cells. Mutations can be caused by mutagens like radiation, viruses, bacteria, or errors during DNA replication. Different types of mutations include missense mutations where one nucleotide is substituted, nonsense mutations where one nucleotide causes premature protein stopping, and insertion/deletion/duplication mutations that alter the number of nucleotides. Gene mutations can cause genetic disorders and diseases like cystic fibrosis and sickle cell anemia. While mutations may be harmful, some can be beneficial or have no effect

1. GENE
MUTATION
By: SHAIKH AFRAN
Guided by: TSISANA GIORGADZE

2. What is gene mutation ?
• A gene mutation is defined as an alternation in
the sequence of nucleotides in DNA.
• Altering of nucleotide sequences most often
results in non-functioning proteins.
• Mutation cause changes in the genetic code
that lead to genetic variation and potential to
develop diseases.

3. Classification
• Hereditary mutations are inherited from
parents, are present through out person life.
• Mutation in every cell in the body.
• Mutation in egg and sperm cell.

4. • Acquire mutation occurs at some time during a
person life.
• Present only in a certain cells.
• Can cause by: UV rays or If mistake is made as
DNA copies itself during cell division.

5. MUTATGENS
• Substances or factors that causes mutations in
DNA are known as mutagens.
• Mutagens may be:
Ionizing radiation: X rays,
Gama rays, and alpha particles and UV radiation.
metabolite of
benzo[a]pyrene from tobacco smoke.
Virus; Rous sarcomas virus
Bacteria; Helicobacter pylori

6. Types of the mutations
• Missense mutation
• Nonsense mutation
• Insertion mutation
• Deletion mutation
• Frame mutation
• Duplication mutation

7. Missense mutation
• This type of mutation is a change in one DNA
base pairs, that result in the substitution of
one amino acid for another in the protein
made by gene.
• Incorrect amino acid sequence, which may
produce a malfunction of protein

8. Nonsense mutation
• A nonsense mutation is also a change in one
DNA base pair.
• Instead of substituting one amino acid,
however the altered DNA sequences
prematurely signals the cell to stop building a
protein.
• Incorrect sequence cause shortening of
protein.

10. Insertion, Deletion and
Duplication mutation
• Insertion mutation: An insertion changes the
number of DNA base pairs by adding piece of
DNA.
• Deletion mutation: A deletion changes the
number of DNA base pairs by removing piece of
DNA.
• Duplication mutation: A duplication consist of a
piece of DNA that is abnormally copied one or
more time.
• This all type of mutations can alter the function of

11. How can gene mutation affect health
and development
• A condition caused by mutation in one or more
genes is called genetic disorder.
• Results in diseases.

12. CYSTIC FIBROSIS
• CF is autosomal recessive disease.
• Mutation on chromosome 7, most common type.
• CF is a genetic disorder, mutation in CFTR (Cystic Fibrosis
Transmembrane conductance Regulator) gene.
• CFTR is found on 7q31.2.
• Delta F508, is a deletion of three nucleotides, that result
in the loss of the amino acid phenylalanine(F).
• CF disease affects mostly the lungs, but also pancreas,
liver, kidney and intestines.

14. SICKLE CELL ANEMIA
• Genetic disorder, causes by glutamic acid
substituted by valine.
• Affected on Chromosome 11.
• Altered codon: GAT to GTG

16. How common mutations
are:
• Mutations occurs at a frequently of about 1 in
every 1 billion base pairs.
• Everybody has about 6 mutations in each cell
in their body.

17. What you think about
mutation ?
• Mutations are not always seen, the affected
gene may still function.
• Mutations may be harmful.
• Mutation may be beneficial.
• Mutation may have no effect on the organism.

18. THANK YOU