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

• Published in: Biochemical medicine and metabolic biology Vol. 52; no. 2; pp. 85 - 88
• Main Authors: Shevtsov, S.P., Rechitsky, S., Verlinsky, O., Schwartz, E.I.
• Format: Journal Article
• Language: English
• Published: Boston, MA Elsevier Inc 01.08.1994; San Diego, CA Academic Press; New York, NY
• Subjects: Adrenal Hyperplasia, Congenital; Base Sequence; Codon; Humans; Molecular Sequence Data; Point Mutation; Steroid 21-Hydroxylase - genetics

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 interfere...