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Human Genetics

Human Genetics . Ch 12. Chromosomal Mutations. Genetic Diseases…. Ultrasound. Sonic picture of fetus Boy or girl?. Amniocentesis. Amniocentesis. Remove amniotic fluid with baby’s cells Observe karyotype 1% risk to fetus. Amniocentesis. Nondisjunction.

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Human Genetics

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  1. Human Genetics Ch 12

  2. Chromosomal Mutations Genetic Diseases….

  3. Ultrasound • Sonic picture of fetus • Boy or girl?

  4. Amniocentesis

  5. Amniocentesis • Remove amniotic fluid with baby’s cells • Observe karyotype • 1% risk to fetus

  6. Amniocentesis

  7. Nondisjunction • Failure of homologous chromosomes to separate properly during meiosis • Karyotype will show extra or missing chromosomes

  8. Diseases from Nondisjunction • Down’s syndrome extra 21 • Trisomy 13 (Patau Syndrome) • Klinefelter’s syndrome 47 XXY • Turner Syndrome 45X • Edwards Syndrome Trisomy 18 • Cri-du-Chat Syndrome missing part of Chromosome #5 Link

  9. Downs Syndrome Karyotype

  10. Downs Syndrome • 1/700 live births • Extra chromosome #21 • Mental retardation • Short • Heart defects • Same facial features • More frequent in mothers over 40

  11. Downs Syndrome

  12. Down’s Syndrome

  13. Down’s Syndrome

  14. Down’s Syndrome

  15. Down’s syndrome

  16. Trisomy 13

  17. Trisomy 13 • Patau syndrome rare 1/20,000 • Extra #13 • Not alert • Deaf • Harelip • Cleft palate • Polydactyly • Live ~6 months

  18. Trisomy 13 (Patau)

  19. Trisomy 13

  20. Trisomy 13

  21. Klinefelters Syndrome

  22. Klinefelters • 47 XXY • 2/1000 male births • Male but sterile

  23. Turner’s Syndrome

  24. Turners • 45X_ • Female, usually sterile and sexually immature • Short, webbed neck

  25. Turners 47

  26. Turners 17

  27. Edward’s Syndrome(Trisomy 18)

  28. Edwards • Extra #18 • Smaller • Ears low and malformed • Webbed neck • Receding chin • Usually die of pneumonia or heart failure

  29. Cri-du-chat (missing part of chromosome #5)

  30. Cri-du-chat (missing part of chromosome #5) • Heart problems • Mental retardation • Abnormality in larynx - cries like a cat

  31. Simple Recessive Heredity

  32. 1. Cystic Fibrosis (CF) • Defective protein in plasma membrane • Mucus clogs lungs, liver, pancreas • 1/20 white am. are carriers • 1/2000 white americans born with CF • Physical therapy, special diet, drug therapy, gene therapy raised life exp to adulthood

  33. 2. Tay Sachs Disease • Missing enzyme that breaks down a lipid produced and stored in tissues of the central nervous system • Newborns appear normal for 5 months • Blind, paralyzed, mentally retarded, die before age 5 • 1/1600 Amish and Jews of Eastern European descent

  34. Baby with Tay Sachs Video link

  35. Children age 3-5 with Tay Sachs

  36. 3. Phenylketonuria (PKU) • Failure of brain to develop • Absence of enzyme that converts phenylalanine to tyrosine, so amino acid builds up in the body • Most common in people with ancestors from Norway or Sweden

  37. Testing • Can detect in newborns, appear normal at first, but milk is high in phenylalanine

  38. Special diet • Avoid foods with phenylalanine • PKU warnings on diet foods

  39. Mom with PKU • Can have high phenylalanine in blood and can damage the fetus even if the fetus is normal • Control diet

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