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autosomal dominant and recessive.txt
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What is gene frequency?
How often the gene appears in a chromosome in a population
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
What are the hardy-wineburg equations?
p+q = 1
p
2
+2pq+q
2
=1
p=T, q=t, pq = Tt
What are the three requirements necessary to utilize the HW equation?
Large population
Random mating
no mutations
Are autosomal dominant diseases enzyme related?
No, they are nonenzymatic
What is Ehlers Danlos syndrome?
Autosomal dominant disease
mutation in alpha-chain encoding
What type of disease is Huntington's disease?
Autosomal dominant
HD gene affected
causes crazy movements at late age
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.
What type of disease is Achondroplasia?
Autosomal dominant
"Dwarfism"
What causes Achondroplasia?
point mutation
missense mutation/gain-of-function
Glycine - Arginine
homozygotes more affected than heterozygotes
What causes Marfan Syndrome?
mutation in
FBN1
gene for
fibrillin
What is Neurofibromatosis Type 1?
Affected NFT1 gene
Produces nonsense stop codon
Symptoms are neurofibromas and Cafe-liat-spots
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)
Author
kepling
ID
52557
Card Set
autosomal dominant and recessive.txt
Description
autosomal dominant and recessive inheritance
Updated
2010-12-01T04:19:41Z
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