autosomal dominant and recessive.txt

  1. What is gene frequency?
    How often the gene appears in a chromosome in a population
  2. When is it necessary to use the hardy-wineburg equation?
    When personal family history is not available and you want to know the gene frequency
  3. What are the hardy-wineburg equations?
    • p+q = 1
    • p2+2pq+q2=1
    • p=T, q=t, pq = Tt
  4. What are the three requirements necessary to utilize the HW equation?
    • Large population
    • Random mating
    • no mutations
  5. Are autosomal dominant diseases enzyme related?
    No, they are nonenzymatic
  6. What is Ehlers Danlos syndrome?
    • Autosomal dominant disease
    • mutation in alpha-chain encoding
  7. What type of disease is Huntington's disease?
    • Autosomal dominant
    • HD gene affected
    • causes crazy movements at late age
  8. What is the difference b/t occurence risk and recurrence risk?
    • Occurrence: risk of producing first affected chile when no children have been produced.
    • Recurrence: risk of producing another affected child when one has all ready been produced.
  9. What type of disease is Achondroplasia?
    • Autosomal dominant
    • "Dwarfism"
  10. What causes Achondroplasia?
    • point mutation
    • missense mutation/gain-of-function
    • Glycine - Arginine
    • homozygotes more affected than heterozygotes
  11. What causes Marfan Syndrome?
    mutation in FBN1 gene for fibrillin
  12. What is Neurofibromatosis Type 1?
    • Affected NFT1 gene
    • Produces nonsense stop codon
    • Symptoms are neurofibromas and Cafe-liat-spots
  13. What is the cause of familial hypercholesterolemia?
    • deposition of LDL in tendons, skin, and arteries
    • loss-of-function disease
    • haplosufficiency (occurs in both homo- and hetero- with homo- being most dangerous)
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autosomal dominant and recessive.txt
autosomal dominant and recessive inheritance