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What is the most common genetic abnormally?

Mark Brandt, Ph.D. mark at indy-lv.biomol.uci.edu
Sun Jun 15 12:44:50 EST 1997

In article <33A367BC.4B7E at sprynet.com.ns>, kakapo at sprynet.com.ns wrote:

> What is the most common genetic abnormally?
> Is hemochromatosis (iron overload) the most common genetic
> abnormally?
> Heterozygous (single gene) 1 in 8
> Homozygous (double gene) 1 in 200

Non-classical 21-hydroxylase deficiency (a form of congenital adrenal
hyperplasia): nearly 1:5 in general population are carriers.

About 1:100 have disorder (the incidence is even higher in some ethnic
groups). Note that there are a number of mutations of varying degree of
severity; many with the disorder are compound heterozygotes (i.e. they have
different mutations in the 21-hydroxylase gene from each of the two copies
of chromosome 6).

Mark Brandt, Ph.D.
My opinions are my own, but I tend to give them away to anyone who fails to
flee fast enough.

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