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HUMAN GENETICS

HUMAN GENETICS. Disorders. AUTOSOMAL RECESSIVE. Autosomes = , chromosomes #1- #22. It causes the body to produce a thick, sticky mucus that clogs the lungs and digestive tract. Cystic Fibrosis-ff. Cystic Fibrosis (cont.). Most common fatal genetic disease in US today

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HUMAN GENETICS

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

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

  8. PKU

  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. AUTOSOMAL DOMINANT

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

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

  17. 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

  18. 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

  19. Woody Guthrie’s disease (folksinger 1960’s) Autosomal dominant Does not manifest itself until age 20’s - 30’s H=dominant disease #4 Huntington’s Disease

  20. 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 Huntington’s

  21. Achondroplasia Autosomal Dominant chromosome 4

  22. 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

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

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

  25. Alzheimer syndrome • Widespread nerve cell dysfunction and cell death, neurotransmitter deficiencies • Dementia • HowStuffWorks Videos "Treating Huntington's Disease"

  26. 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

  27. Brain Loss

  28. 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 

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

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

  31. On X chromosome SEX-LINKED DISORDERS

  32. Hemophilia

  33. Blood does not clot normally Sex-linked recessive Missing AHF (clotting factor in blood) Czar Nicholas royal family Hemophilia

  34. Royal Pedigree-Hemophilia

  35. XHXh = female carrier XhXh = female hemo XHY = normal male XhY = hemo male “bleeder’s disease”

  36. More common in males Sex-linked (red and green on X chromosome) Blue is on an autosome Color Blindness Ishihara Test for Color Blindness

  37. 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.

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

  39. What numbers do you see?

  40. Note: X and Y used

  41. Need X and Y on Punnetts

  42. Duchenne Muscular Dystrophy

  43. MD • Duchenne Muscular Dystrophy • On Xm chromosome • Weakens and degenerates muscles • Found mostly in males

  44. Onset ·Early childhood - about 2 to 6 years. Symptoms ·Generalized weakness of muscle Wasting affecting limb and trunk Leg muscles first. Calves often enlarged. DMD

  45. Survival rare beyond late twenties. X-linked recessive (females are carriers). DMD

  46. POLYGENIC DISORDERS • Determination of disorder occurs on more than one chromosome

  47. SPINA BIFIDA is a fault in the spinal column in which one or more vertebrae (the bones which form the backbone) fail to form properly, leaving a gap or split.

  48. Gap in spinal column Spina Bifida #6, #14 and others

  49. Shunts often put in the brain to drain the fluid

  50. Agent Orange • Children with Spina Bifida whose parent was in contact with Agent Orange during the Vietnam War are compensated

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