Gene mutation IN Detail And structure Symptoms Cause

Genemutation Causes,Symptoms,Stucture And Abnormalities

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 (Germ line mutation) 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. Acquired (Somatic mutation) 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: Physical mutation: Ionizing radiation: X rays, Gama rays, and alpha particles and UV radiation. Chemical mutation: metabolite of benzo [a] pyrene from tobacco smoke. Biological agent: 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.

9. Insertion, Deletion and D uplication 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 protein.

10. 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.

11. CYSTIC FIBROSIS CF is autosomal recessive disease. M utation on chromosome 7, most common type. CF is a genetic disorder, mutation in CFTR ( C ystic 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.

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

13. 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.

14. 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.

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