1. Mutations

2. Mutation: damage to genetic material
A mutation is usually not beneficial. Mutagens are things that cause mutations. They include:
1. High Temperatures
2. Toxic Chemicals (pesticides, etc)
3. Radiation (nuclear and solar)
4. Microwave
5. Fruit from the store
6. Radar /cellular phone waves

3. TYPES OF MUTATIONS Somatic = Skin cells
Germinal = Sperm or Egg This is more threatening because they can be passed to offspring (forever).

4. Types of mutations
3. Chromosomal: affecting whole or a part of a chromosome
4. Gene: changes to the bases in the DNA of one gene

5. How do you get mutations?
Mutations can be inherited.
Parent to child
Mutations can be acquired.
Environmental damage
Mistakes when DNA is copied

6. Chromosome Mutations Chromosome 21 does not separate correctly.
Down Syndrome
Chromosome 21 does not separate correctly.
They have 47 instead of 46 chromosomes
Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of intelligence.

7. Chromosome Mutations Cri-du-chat
Deletion of material on 5th chromosome
Characterized by the cat-like cry made by cri-du-chat babies
Varied levels of metal handicaps

8. Sex Chromosome Abnormalities
Klinefelter’s Syndrome
XXY, XXYY, XXXY
Male
Sterility
Small testicles
Breast enlargement

9. Sex Chromosome Abnormalities
XYY Syndrome
Normal male traits
Often tall and thin
Associated with antisocial and behavioral problems

10. Sex Chromosome Mutations
Turner’s Syndrome X
Female sex organs don't mature at adolescence
sterility
short stature

11. Sex Chromosome Mutations
XXX
Trisomy X
Female
Little or no visible differences
tall stature
learning disabilities
limited fertility

12. 1. Dwarfism (achondroplasia)
2. Gigantism (acromegaly)
The genes that we have covered so far affect only one phenotypic character, but most genes are pleiotropic

14. Acromegaly: André the Giant

15. Some mutations even make it on SNL!

17. Johnny & Edgar Winter
Albinism
albino Africans

18. Other Genetic Diseases of Interest
Blue People! Progeria

19. Chromosomal Abnormalities
Turners (XO) Kleinfelters (XXY) Down Syndrome
Cri du Chat

20. Nondisjunction of the sex chromosomes

22. TURNER’S SYNDROME

23. KLINEFELTER’S SYNDROME

24. Sickle Cell

25. Celebrities with Sickle Cell
T-Boz , Mobb Deep, Tiki Barber