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Question to people who know about genetics

4 replies

emkana · 24/08/2006 19:19

I understand that some of the skeletal dysplasia have an autosomal dominant inheritance pattern, but with a large proportion of cases being spontaneous mutations. (achondroplasia for example)

When you have an autosomal recessive inheritance pattern, is there also the possibility that some cases are due to spontaneous mutations?

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emkana · 24/08/2006 19:40

bump

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emkana · 24/08/2006 19:41

Oh and please correct me if I've said all this all wrong.

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tamum · 24/08/2006 19:42

Yes, but not as much. If it's recessive there has to be a mutation on both sides, as you know, so whilst it is vanishingly unlikely that there would be two spontaneous mutations, there could be one and then the other person happens to be a carrier. Unlikely, but possible.

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tamum · 24/08/2006 19:43

No, you said it all right

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