CYP21基因中导致非典型21-羟化酶缺乏的两个点突变的非同位素鉴定。

Nonisotopic identification of two point mutations in the CYP21 gene responsible for nonclassic 21-hydroxylase deficiency.

作者信息

Shevtsov S P, Rechitsky S, Verlinsky O, Schwartz E I

机构信息

St. Petersburg Institute of Nuclear Physics, Russian Academy of Sciences, St. Petersburg.

出版信息

Biochem Med Metab Biol. 1994 Aug;52(2):85-8. doi: 10.1006/bmmb.1994.1037.

DOI:10.1006/bmmb.1994.1037

PMID:7993665

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.

摘要

开发了一种简单的非放射性方法，用于鉴定CYP21B基因中的Pro-30-Leu和Val-281-Leu突变等位基因。这种方法不仅改善了对迟发型21-羟化酶缺乏症患者的突变分析，还减少了CYP21A假基因序列干扰带来的问题。