This document discusses different types of gene and chromosomal mutations. It describes point mutations like silent, missense, and nonsense mutations. It also discusses chromosomal mutations such as deletions, transitions, translocations, inversions, and insertions. Examples are given of genetic disorders caused by different mutations, including Down Syndrome, Klinefelter's Syndrome, XYY Syndrome, Turner's Syndrome, and XXX Syndrome.

6. 
GENE MUTATION

CHROMOSOMAL MUTATION

9. 1.
Point Mutation
2.
Frameshift Mutation
3.
Silent Mutation
4.
Missense Mutation
5.
Nonsense Mutation

10. DELETION
TRANSITION
TRANSLOCATION
INVERSION
INSERTION
TRANSVERSION

11.  Insertion
 Deletion

12. Normal gene
GGTCTCCTCACGCCA
↓
CCAGAGGAGUGCGGU
Codons
↓
Pro-Glu-Glu-Cys-Gly
Amino acids
Addition mutation
GGTGCTCCTCACGCCA
↓
CCACGAGGAGUGCGG
U
↓
Pro-Arg-Gly-Val-Arg

13. Normal gene
GGTCTCCTCACGCCA
↓
CCAGAGGAGUGCGGU
Codons
↓
Pro-Glu-Glu-Cys-Gly
Amino acids
Deletion mutation
GGTC/CCTCACGCCA
↓
CCAGGGAGUGCGGU
↓
Pro-Gly-Ser-Ala-Val

14. 3.
SILENT
4.
MISSENSE
5.
NONSENSE

18. Deletion
ABC *DEF
AC * DEF

19. Cri-du-chat

20. ABC * DEF
ABBC *DEF

21. 
Inversion
ABC * DEF
AED * CBF

22. Translocation
ABC * DEF GHI *JKL
ABC *JKL
GHI *DEF

25. Down Syndrome

26. 
Klinefelter’s Syndrome
› XXY, XXYY, XXXY
› Male
› Sterility
› Small testicles
› Breast enlargement

27. 
XYY Syndrome
› Normal male traits
› Often tall and thin
› Associated with antisocial and behavioral
problems

28. 
Turner’s Syndrome
› X
› Female
› sex organs don't mature at adolescence
› sterility
› short stature

29. XXX Syndrome
o Trisomy X
o Female
o tall stature
o learning disabilities
o limited fertility