Mutation/ Error in Transmission
A mutation is change in DNA sequence. A mutation occurs when a DNA gene is damaged or change in such a way as to alter the genetic message carried by that gene.
Mutation can result from DNA copying mistakes made during cell division.
Causes of Mutation
Exposure to ionizing radiation
Exposure to chemical called mutagens
Infected by virus
Random change in base sequenced gene
Type of Mutation
1. Germline mutation
Occurs in gametes, transmitted to offspring.
2. Chromosomal alteration
Mutation that change chromosomal structure (major changes in genetic material).
Chromosomal Abberrations;
1. Deletion
Loss
2. Dulication
Multiplication
3. Inversion
4. Insertion
Addition
5. Translocation
Rearrangement
6. Non adjustment
7. Mosaicism
8. Ring
3. Point mutation
Change in single nucleotide.
4. Frame shift mutation
Deletion or insertion of one or more nucleotide that changes the reading frame of base sequence.
Deletion remove nucleotide and insertion add nucleotides.
5. Somatic mutation
Occurs in other cells of body. Somatic mutations cannot be passed to offspring.
Diseases Occurs due to Mutation
1. Sickle cell anemia
2. Hemochromatosis
3. Haemophilia
4. Phenylketonuria
5. Turner Syndrome
Only one X chromosome present in Female.
6. Color blindness
7. Down syndrome; Trisomy 21
Extra genetic material present on chromosome number 21.
8. Klinefelter's syndrome
Extra X chromosome present in Male.
9. Tay Sachs disease
Destroy nerve cell in brain and spinal cord.
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