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
- p²+2pq+q²=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)

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autosomal dominant and recessive.txt

Description

autosomal dominant and recessive inheritance

Updated

2010-12-01T04:19:41Z

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