21-羟化酶缺乏症标志物I172N突变与CYP21B基因Int6中一个单核苷酸多态性之间的连锁关系：撒丁岛家族的遗传学研究

Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.

作者信息

Concolino Paola, Satta Maria Antonia, Santonocito Concetta, Carrozza Cinzia, Rocchetti Sandro, Ameglio Franco, Giardina Emiliano, Zuppi Cecilia, Capoluongo Ettore

机构信息

Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry Catholic University, Rome, Italy.

出版信息

Clin Chim Acta. 2006 Feb;364(1-2):298-302. doi: 10.1016/j.cca.2005.07.020. Epub 2005 Sep 19.

DOI:10.1016/j.cca.2005.07.020

PMID:16171792

Abstract

Congenital adrenal hyperplasia (CAH) is a genetic disorder due to 21-hydroxylase deficiency. More than 90% of CAH cases are caused by mutations of CYP21B gene, most of which are the result of microconversion events between the functional gene and its pseudogene. Using a combination of RFLP and direct sequencing analysis, in this paper we describe the genetic study of a Sardinian family carrying I172N mutation in linkage with a SNP namely 1636 Int6. The characterization of new polymorphisms in CYP21B can improve the analysis of segregation of CYP21B mutated alleles especially in genetic familial studies. The analysis of linkage between specific mutations and this SNPs, especially if focused on genetic familial studies, may improve the quality of genetic analysis of 21-hydroxylase deficiency.

摘要

先天性肾上腺皮质增生症（CAH）是一种由于21-羟化酶缺乏引起的遗传性疾病。超过90%的CAH病例是由CYP21B基因突变所致，其中大多数是功能性基因与其假基因之间微转换事件的结果。本文使用限制性片段长度多态性（RFLP）和直接测序分析相结合的方法，描述了一个撒丁岛家族的遗传学研究，该家族携带与单核苷酸多态性（SNP）即1636 Int6连锁的I172N突变。CYP21B中新多态性的表征可以改善CYP21B突变等位基因分离的分析，特别是在遗传家族研究中。特定突变与这些SNP之间连锁关系的分析，尤其是如果聚焦于遗传家族研究，可能会提高21-羟化酶缺乏症遗传分析的质量。