1. Inherited Human Disorders

2. A) Hemophilia
1) Lack of a blood clotting protein

4. 2) recessive, sex linked
2) recessive, sex-linked disorder

5. Hemophilia, cont.
Famous pedigree of Queen Victoria’s family

6. B) Albinism
1) Limited pigment in the eyes, skin and hair

7. Albinism, cont. 2) Results in: white hair, pale skin, pink pupils
3) Problems with vision and sun exposure

8. 4) Albinism- recessive, autosomal trait

9. If both parents are carriers:

10. C. Huntington Disease - Symptoms
Huntington’s video
C. Huntington Disease - Symptoms
Effects:
-emotions
-cognition
-movement
2) Awkward gait,
clumsiness.
depression
memory loss

11. Huntington Disease - Cause
3) Faulty proteins cause
brain cells to die
4) Dominant, autosomal
5) Onset of symptoms later
in life (30-45 y.o.)
6) Genetic test available
7) Currently no cure

12. Huntington Disease Pedigree
Autosomal, dominant

13. D) Tay Sachs Relentless deterioration of mental and physical abilities
After normal development, child becomes blind, deaf, unable to swallow and paralyzed.

14. -more common in people of Eastern European Jewish descent
Tay Sachs - Pedigree
-autosomal
-recessive
-more common in people of Eastern European Jewish descent
TAY SACHS clip

15. E) Cystic Fibrosis
1) Thick mucus blocks digestion and respiration

16. Cystic Fibrosis, cont

17. Cystic Fibrosis, cont
2) autosomal,
recessive trait

18. Treatment: physical therapy, medication,
CF video
Cystic Fibrosis, cont
Treatment: physical therapy, medication,
special diet, and replacement digestive enzymes

19. 4) Life expectancy is improving

20. F) Achondroplasia Characterized by small body size and short limbs
= dwarfism

21. Achondroplasia, cont.
2) Symptoms: unusually large head, unusually prominent abdomen and buttocks, short limbs

22. Achondroplasia, cont.
3) Genetics:
a) autosomal dominant
b) spontaneous mutation

23. G) Marfan Syndrome
1) Tall, thin bodies that are disproportionate – arm span is often greater than height.

24. Marfan Syndrome, cont.
2) Loose joints and fingers

25. Marfan Syndrome, cont. 3) Breast bone sticks in or protrudes out
4) Enlarged, weakened aorta

26. Marfan Syndrome, cont.
5) Autosomal dominant - no carriers