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5 Cards in this Set
- Front
- Back
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When would considering genetic contribution to any given disease be improtant?
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1) accurate diagnosis
2) tailoring therpay e.g. inherited disorder may impact metabolism of drug 3) prediction of disease risk or presymptomatic diganosis in relatives 4) prenatal counselling |
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For monogetic dieases, what is the genetic risk in first degree relatives?
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25% in AR
50% in AD |
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For complex diseases, what is the genetic risk in first degree relatives?
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usually <5-10%
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In Alzheimer's Disease, what are the highly penetrant genetic mutations?
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presenilin 1 and presenilin 2
APP gene Rare, but most with mutations will get the disease |
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Why would a family history not always be positive for all genetic diseases?
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Chrm disorders increase with maternal age
New mutations in single genes often increase with paternal age Proportional to the impact on biological fitness |
