bflare

Autosomal recessive or dominant?

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I have a rare medical condition that can affect 1 in 5000 to 1 in 40,000 depending on the subtype. I have been clinically diagnosed but awaiting genetic testing. There are 12 subtypes & some are autosomal recessive or dominant. I believe due to the inheritance pattern the condition I have is autosomal dominant. I believe this because my son, me, my father & his mother all have the condition. For it to fall into the autosomal recessive category it would be highly unlikely to be passed through 4 generations given that both parents would need the mutated gene. From what I have researched it appears to be autosomal dominant given that only one parent needs to have the mutated gene which would mean there is a 50/50 chance of it been passed down through generations.

Could someone please confirm this?

 

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9 hours ago, bflare said:

From what I have researched it appears to be autosomal dominant given that only one parent needs to have the mutated gene which would mean there is a 50/50 chance of it been passed down through generations.

That is correct. The overall likelihood is of course difficult to ascertain with limited data and can depend on a lot of different factors, including prevalence in a specific population group. 

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