This document discusses genetic mutations including:
1. Gene mutations such as point mutations and frame shift mutations.
2. Chromosomal mutations including deletions, duplications, inversions, insertions, translocations, and non-disjunction.
3. Several genetic disorders caused by specific mutations like Cri du chat syndrome caused by deletions and Down's syndrome caused by non-disjunction.
5. MUTATION
A natural process that changes the
DNA structure of an organism,
resulting to new characteristics
Changes in Genetic Code
6. Causes of mutation
1. Spontaneous mutation
something went wrong in the process
of replicating or forming the gametes
2. Induced mutations
environment: radiation , chemicals,
high temperatures, microbial infections
7. Types of Mutation
1. Gene mutation
only a single gene is affected which
happens during the replication of DNA.
2. Chromosomal mutations
any change in the number or structure
of a chromosome.
12. 1. Gene Mutation
1.2. Frame shift Mutation
Involves the insertion or deletion of a
nucleotide in the DNA sequence that
changes codons. The shift may
produce different amino acids and
proteins.
47. Diagnosing Genetic Disorders
There are several ways to determine whether a
child will have a genetic disorder
Two main ways to diagnose:
Analysis of fetal cells
Amniocentesis
Chorionic villus biopsy
Imaging techniques
Ultrasonography (computerized image)
Fetoscopy (direct observation)