HUMAN GENETICS

1. HUMAN GENETICS Disorders

2. AUTOSOMAL RECESSIVE • Autosomes = , chromosomes #1- #22

3. It causes the body to produce a thick,sticky mucus that clogs the lungs and digestive tract. Cystic Fibrosis-ff

4. Cystic Fibrosis (cont.) • Most common fatal genetic disease in US today • Most common in Caucasians • Cystic Fibrosis Movie

5. Chromosome 7 FF = no CF Ff = carrier ff = has CF (recessive) Cystic Fibrosis

6. PKU • Phenylketonuria (PKU)

7. Lacks enzyme to break down the amino acid phenylalanine (found in milk) PKU on chromosome 12

8. PKU (cont.) • The breakdown products can be harmful to developing nervous systems • Leads to mental retardation. • Kate with PKU Movie

9. Chromosome 12 Put on low protein diet Avoid phenylalanine PKU

10. Results in degeneration of the nervous system. Chromosome 15 Highest rate in Eastern European Jews TAY SACHS

11. Tay Sachs (cont) • Lack enzyme to break down fat, accumulates in brain • tt • Chromosome 15 • NOVA Online | Cracking the Code of Life | Watch the Program Here #3

12. Tay-Sachs Symptoms Symptoms first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out, and eventually becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 4.

13. Inability to manufacture pigments (melanin) in skin and eyes Autosomal recessive trait Chromosome 11 (will be in movie) Albinism

14. Albinism

15. Andy Warhol, a famous musician and filmaker (now dead), was an albino. Rock musician Edgar Winter, an albino.

17. Different kinds of albinism affect chromosomes 1, 9, 10, 11, 15 and X. Often rapid back and forth eye movement – lack of pigment in eyes.

19. AUTOSOMAL DOMINANT

20. Autosomal dominant disease -#11 Red blood cells collapse and clot blood vessels Found in African-Americans Sickle Cell Anemia

21. Normal Red Blood Cells-like a donut Sickle-cells collapse, hard, clog vessels Sickle-Cells

22. Sickle-Cell Anemia • Codominant • SS = disease • AS = carrier (somewhat resistant to malaria) • AA =normal hemoglobin • Sickle Cell Disease - What Causes Sickle Cell Disease Video - About.com

23. Sickle-Cell Complications 1.pain episodes 2.strokes 3.increased infections 4.leg ulcers 5.bone damage 6.yellow eyes or jaundice 7.early gallstones 8.lung blockage 9.kidney damage and loss of body water in urine 10.painful erections in men (priapism) 11.blood blockage in the spleen or liver (sequestration) 12.eye damage 13.low red blood cell counts (anemia) 14.delayed growth

24. Woody Guthrie’s disease (folksinger 1960’s) Autosomal dominant Does not manifest itself until age 20’s - 30’s H=dominant disease Huntington’s Disease

25. Chromosome 4 Atrophy of brain Uncontrollable muscle spasms Huntington's Disease Information - HOPES - HOPES Video Player (SWF) (segment 4) New Treatment for Huntington's Disease - Health Videos – redOrbit 40+ CAG’s HowStuffWorks Videos "Treating Huntington's Disease" Huntington’s

26. Huntington’s • Clumsiness • Jaw clenching • Loss of coordination and balance • Slurred speech • Swallowing and/or eating difficulty • Uncontrolled continual muscular contractions • Walking difficulty, stumbling • Hostility/irritabilityInability to take pleasure in life • Lack of energy • person with Huntington's also may exhibit psychotic behavior: • Delusion • Halluciations • Inappropriate behavior (e.g., unprovoked aggression) • Paranoia

27. Achondroplasia -Autosomal Dominant -chromosome 4

28. Achondroplasia • Dwarfism • short stature • Dwarfism • shortening of limbs, • trident hands • prominent forehead, • Average adult male height of 52 inches; average adult female height of 49 inches

30. FAQ • Can short-statured couples become the parents of average-size children? • AA=dead • Aa=Achondroplasia • aa=normal A a A a

31. FAQ • Can short-statured couples become the parents of average-size children? • AA=dead • Aa=Achondroplasia • aa=normal A a A a

32. Alzheimer syndrome • Widespread nerve cell dysfunction and cell death, neurotransmitter deficiencies • Dementia

33. Alzheimer Syndrome • Autosomal Dominant • Found on Chromosome 1, or 10, or 14, or 19, or 21 • APO4, is a cholesterol-carrying protein linked to development a protein that forms plaque in the brain

34. Brain Loss

35. Early or mild stage: • memory loss, especially of recent events • difficulty in recalling names and conversations • misplacing objects  • becoming lost in familiar neighborhoods • repeating stories and conversations • difficulty in learning new information • personality changes • decreased motivation and drive • easily upset or anxious 

36. Marfan Syndrome • autosomal dominant disorder • chromosome 15 • (will be in movie)

37. Marfan’s: taller, pigeon chest Spidery fingers, enlargement of aorta

38. Marfan Syndrome • a connective tissue disorder, • Affects skeleton, lungs, eyes, heart and blood vessels. • unusually long limbs • affected Abraham Lincoln.

39. On X chromosome SEX-LINKED DISORDERS

40. Hemophilia- “bleeder’s disease”

41. Blood does not clot normally Sex-linked recessive Missing AHF (clotting factor in blood) Czar Nicholas royal family Hemophilia passed by queen victoria

42. Royal Pedigree-Hemophilia

43. XHXh = female carrier XhXh = female hemo Hemophilia Video (from WHF) XHY = normal male XhY = hemo male “bleeder’s disease”

44. Color Blindness • inability to perceive differences between some of the colors that others can distinguish. • More common in males • Sex-linked (red and Green) on X chromosome

45. 3 seconds to determine number Color Blindness Ishihara Test for Color Blindness

46. Ishihara Test for Color Blindness • The individual with normal color vision will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness will see a 2 revealed in the dots.

47. Recessive on X chromosome = c XCXc = normal female (carrier) XcY = color-blind male Color blindness=can’t tell certain colors

48. What numbers do you see?

49. Note: X and Y used

50. Need X and Y on Punnetts