Article
Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
The Journal of clinical endocrinology and metabolism - 1 Oct 2009
Kleinle S, Lang R, Fischer G F, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer S M
Abstract excerpt
CONTEXT: Rare haplotypes with Q318X mutations and duplicated CYP21A2 genes have been reported to occur in different populations to a varying extent. Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congenital adrenal hyperplasia (CAH, Q318X mutation without duplicated functional gene) allele is of importance, particularly for prenatal diagnosis and the respective...
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