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

被引：9

作者：

Concolino, P

Satta, MA

Santonocito, C

Carrozza, C

Rocchetti, S

Ameglio, F

Giardina, E

Zuppi, C

Capoluongo, E ^{[1
]}

机构：

[1] Catholic Univ, Lab Clin Mol Biol, Dept Biochem & Clin Biochem, Rome, Italy

[2] Catholic Univ, Dept Endocrinol, Rome, Italy

[3] Catholic Univ, Dept Clin Surg, Rome, Italy

[4] Univ Roma Tor Vergata, Dept Biopathol, Rome, Italy

来源：

CLINICA CHIMICA ACTA | 2006年 / 364卷 / 1-2期

关键词：

SNP; CYP21B; CAH-SV; RFLP; DNA sequencing;

D O I：

10.1016/j.cca.2005.07.020

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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. (C) 2005 Elsevier B.V. All rights reserved.

引用

页码：298 / 302

页数：5

共 25 条

[1] Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia [J].