COMEDK 2007 MCQ Answer 140
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The correct answer is C
Autosomal dominant disorders comprise the majority (about 75%) of known human Mendelian conditions. Because they do not 'skip generations' as a rule, the familial nature of these disorders is often apparent to members of an affected family, even before formal medical evaluation. Pedigrees typically have a vertical pattern, i.e. clear evidence of transmission from one generation to the next.
Hereditary hemochromatosis
Autosomal dominant disorders comprise the majority (about 75%) of known human Mendelian conditions. Because they do not 'skip generations' as a rule, the familial nature of these disorders is often apparent to members of an affected family, even before formal medical evaluation. Pedigrees typically have a vertical pattern, i.e. clear evidence of transmission from one generation to the next.
Hereditary hemochromatosis
- Inheritance: autosomal recessive
- Gene: HFE – codes for hepcidin
- Carrier frequency: 1 in 8 to 10 Caucasians
- Predicted incidence of disease therefore is 1 in 250-400
- BUT, penetrance of disease is very low 1-10% of patients homozygous for C282Y, That’s why no population screening
- Mutations: C282Y most important, H63D less so
- Assay approach: multiple (we use PCR/RFLP at UPMC)
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