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Human Genetics

Human Genetics. Identifying Human Phenotypes:. PTC Taster. Examining Human Traits. Complicating factors Ambiguous phenotypes, multiple alleles, major and minor genes, turn off genes, penetrance, expressivity Environment important factor.

christophe-alden
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Human Genetics

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  1. Human Genetics

  2. Identifying Human Phenotypes:

  3. PTC Taster

  4. Examining Human Traits • Complicating factors Ambiguous phenotypes, multiple alleles, major and minor genes, turn off genes, penetrance, expressivity • Environment important factor

  5. Pedigree – Family history to show the transfer of genetic traits Key Mating Male Affected male Offspring, in birth order (first-born on left) Female Affected female

  6. Genetic disorders Pedigree : Chart used to trace family histories of genetic traits

  7. Pedigree

  8. Hemophilia Family Tree

  9. Karyotyping

  10. Karyotyping

  11. Down’s Syndrome

  12. Autosomal Dominant Traits

  13. ACHOO Syndrome • Sneezing in bright light

  14. X • Dwarfism – Homozygous lethal

  15. Sickle Cell Anemia Blood disease – 99% Black population Codominant trait

  16. PTC Taster Bitter chemical taste Phenylthiocarbamide

  17. Polydactyly - extra finger or toe

  18. Autosomal Recessive Traits

  19. Albinism – (7 kinds in humans)

  20. PKU Phenylketonuria Lack enzyme to metabolize phenylalanine. Mental retardation without treatment. N. European descent

  21. PKU - 1 in 15,000 Americans. • A non-food source of phenylalanine is the artificial sweetener Aspartame. This compound, sold under the trade names "Equal" and "NutraSweet", is metabolized by the body into several chemical byproducts including phenylalanine.

  22. Cystic Fibrosis Prevents normal breathing and digestion. White americans

  23. Tay-Sachs Disease Nervous system deterioration. European Jews

  24. Porphyria • Port wine urine disease • Iron abnormality • George III – American Independence, Mary Queen of Scots • Rare form – eastern Europe • Long fine hair all over body, dying necrotic tissue, eyes sensitive to light, gums destroyed, teeth with iron deposits

  25. Porphyry ?

  26. Sex-linked RecessiveColorblindness

  27. Sex-linked Recessive Hemophilia

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