Nonisotopic Identification of Two Point Mutations in the CYP21 Gene Responsible for Nonclassic 21-Hydroxylase Deficiency

Abstract

A simple nonradioactive method was developed for identification of the Pro-30-Leu and Val-281-Leu mutant alleles in the CYP21B gene. Not only does this approach improve mutation analysis for patients with the late onset form of 21-hydroxylase deficiency, but it also decreases problems with interference by the CYP21A pseudogene sequence.