This document discusses genetic mutations including definitions, causes, types (gene and chromosomal), examples of disorders caused by specific mutations, and methods for diagnosing genetic disorders. The main types of chromosomal mutations are deletion, duplication, inversion, insertion, and translocation. Cri du chat results from deletion, Jacobsen syndrome from deletion, Down's syndrome from non-disjunction, Edward's syndrome from non-disjunction, and Turner's syndrome from non-disjunction.

1. Review
1.DNA
2.RNA
3.Guanine
4.Adenine (DNA)
5.Adenine (RNA)

2. Central Dogma
DNA RNA ProteinsTranscription Translation

3. Superheroes

4. MUTATIONS
Changes in the Genetic Code

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.

8. Mutation
Mutation
Gene Mutation
Point mutation
Frame shift
mutation
Chromosomal
Mutation
Deletion
Duplication
Insertion
Inversion
Translocation
Non-
disjunction

9. 1. Gene Mutation
1.1. Point Mutation
An incorrect nucleotide is substituted
for the correct nucleotide

11. Disorder

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.

14. Disorder
Cystic
fibrosis

15. Mutation
Mutation
Gene Mutation
Point mutation
Frame shift
mutation
Chromosomal
Mutation
Deletion
Duplication
Insertion
Inversion
Translocation
Non-
disjunction

16. Normal male karyotype

17. Normal female karyotype

18. 2. Chromosomal Mutation
2.1. Deletion
One or more gene is
removed.

20. Disorder
Cri du chat

22. Disorder
Jacobsen
Syndrome

24. 2. Chromosomal Mutation
2.2. Duplication
A segment of genes is copied
twice and added to the
chromosome in duplication

26. Disorder
Charcot-Marie-Tooth disease

28. 2. Chromosomal Mutation
2.3. Inversion
When a segment of genes flip
end-to-end on the chromosome,
inversion occurs.

30. Disorder
Four Ring Syndrome

31. 2. Chromosomal Mutation
2.4. Insertion
A portion of chromosome
breaks off, and attaches to
another chromosome

32. 2. Chromosomal Mutation
2.5. Translocation
Genes are swapped with
another chromosome.

35. 2. Chromosomal Mutation
2.5. Non-disjunction
During anaphase II in
meiosis, homologous
chromosomes fail to
separate.

37. Disorder
Down’s Syndrome

39. Disorder
Edward’s Syndrome

41. Other Genetic Disorder
Klinefelter’s Syndrome
r

44. Other Genetic Disorder
Turner’s Syndrome

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)

48. Benefits of Mutation

49. Mutation
Mutation
Gene Mutation
Point mutation
Frame shift
mutation
Chromosomal
Mutation
Deletion
Duplication
Insertion
Inversion
Translocation
Non-
disjunction

50. Determine the Chromosomal mutations in
the following genetic disorder:
1. Cri du chat –
2. Jacobsen syndrome –
3. Down’s syndrome –
4. Edward’s syndrome –
5. Turner’s syndrome –