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Human Genetic Disorders

Human Genetic Disorders. Recall: Autosome - any chromosome other than the X & Y ( humans have 22 pairs of autosome + 1 pair of sex chromosomes). Autosomal Recessive Disorders. Most affected children have unaffected parents Heterozygotes (carriers) are unaffected .

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Human Genetic Disorders

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  1. Human Genetic Disorders

  2. Recall: • Autosome - any chromosome other than the X & Y (humans have 22 pairs of autosome + 1 pair of sex chromosomes)

  3. AutosomalRecessive Disorders • Most affected children have unaffected parents • Heterozygotes (carriers) are unaffected

  4. AutosomalRecessive Disorders Build up of lipids in the body – lysosomes do not function properly Tay - Sachs Disease • More common among Jewish populations • Young children begin showing signs of slowed development • Severe impairment and death

  5. AutosomalRecessive Disorders Cystic Fibrosis • More common in Caucasians • Mucus in respiratory tract, difficulty breathing • Extreme salty sweat • Mucus may cause secondary infections

  6. AutosomalRecessive Disorders Phenylketonuria (PKU) • Lack enzyme for normal metabolism • Phenylalanine builds up and causes brain damage • Newborns are routinely tested • Changes in diet lead to normal life

  7. PKU

  8. Can be managed if caught early

  9. AutosomalRecessive Disorders Sickle Cell Disease • More commonin Africans (African-Americans) • Causes blood to besickle shaped • Affects oxygen flow toorgans, causing weakness, pain, anemia, etc • Heterozygotes are resistant to malaria

  10. Sickle-Cell Anemia

  11. Autosomal Dominant Disorders • Affected children usually have an affected parent • Heterozygotes are effected • Two heterozygotes (Hh x Hh) can produce a normal (hh) child

  12. AutosomalDominant Disorders Huntington Disease • Neurological disorder, progressive degeneration of the brain • Symptoms appear later in life (40s, 50s)

  13. Huntington’s Disease

  14. Huntington’s Disease

  15. AutosomalDominant Disorders Achondroplasia • Common form of Dwarfism • Short arms and legs, normal torso • Homozygotes (AA) do not survive

  16. Achondroplasia

  17. HDLs vs. LDLs

  18. AutosomalDominant Disorder Hypercholesterolemia • Incomplete dominance • Caused by a recessive allele, however in the heterozygous form (Hh), individuals have 2x the normal blood cholesterol levels

  19. Can lead to Atherosclerosis

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