2. How is sickle cell anemia being passed from parents to offspring?

3. You guessed it. Sickle cell anemia is a recessive trait.

4. But what about dominant traits? Can they be passed along too?

5. Human genetic disorders

6. Autosomal recessive
2) Autosomal dominant
3) sex-linked

7. (infantile tay sach’s)
Tay Sach’s Disease
(infantile tay sach’s)
caused by a defective gene on chromosome 15
rare disease that commonly affects the Eastern Jewish population
body lacks a protein that breaks down gangliosides
gangliosides build up in nerve cells found in the brain and cause damage
--> parts of the cellular membrane

8. (infantile tay sach’s)
Tay Sach’s Disease
(infantile tay sach’s)
characterized by a red spot on a person’s retina
symptoms include:
-loss of motor skills
-deafness
-decreased eye contact
-seizures
-paralysis
child usually dies by age 4 or 5
no cure

9. Cystic fibrosis caused by a defective gene on chromosome 7
30,000 children & adults in the U.S
70,000 worldwide
characterized by an unusual sticky mucus
affects the lungs and digestive system
median age of people with CF is mid-40s
no cure

10. albinism caused by one of four defective genes: - TYR - OCA2 - TYRP1
- SLC45A2
characterized by a partial or complete loss
of melanin
--> pigment that causes color in hair,
skin, and eyes

11. pedigree

12. pedigree

13. Autosomal recessive
2) Autosomal dominant
3) sex-linked

14. Huntington’s disease caused by a defective gene on chromosome 4
1 out of 10,000 in the U.S
neurodegenerative disorder
CAG triplet repeat causes a build up of the huntingtin protein in the brain
chromosome 4

15. Huntingdon’s disease symptoms usually appear in mid-30s - mood swings,
no cure
- mood swings,
- personality change,
- slurred speech,
- impaired judgement,
- involuntary movements

16. achondroplasia caused by a defective gene on chromosome 4
(dwarfism)
caused by a defective gene
on chromosome 4
results in severely shortened
limb bones
homozygous dominant
individuals are usually stillborn or die very early
heterozygous individuals live a normal life

17. Autosomal recessive
2) Autosomal dominant
3) sex-linked

18. sex-linked ** remember females have XX and males have XY **
recessive disorders typically affect males more often than females because females usually have dominant allele that will mask

19. hemophilia
affected individuals have little to no clotting factor

20. royal family pedigree

21. color blindness
caused by defective genes on the X chromosome that produce photpigments
totally or partial color blindness
- blue yellow
- red green

31. Disorders caused by
Changes in the
chromosome

32. Fragile x dominant caused by a duplication
mutation on the X chromosome
causes mild to severe intellectual
disabilities
causes physical changes
- similar to autism
- long narrow face
flat feet
- large ears
prominent jaw and forehead

33. cri-du-chat caused by a deletion mutation on chromosome 5
causes severe
intellectual disabilities
causes physical changes
- low birth weight
- low muscle tone
rounded face
widely set eyes

34. nondisjunction failure of homologous chromosomes to separate
during meosis

35. turner’s syndrome affected girls are missing an entire sex chromosome
non-functioning ovaries
no menstrual cycle
sterile
XO sex chromosome

36. down’s syndrome caused by a trisomy on chromsome 21
intellectual disabilities
physical characteristics
- low IQ
- impaired senses
- small chin
- wide flat face
- slanted eyes
- short neck

37. down’s syndrome