Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran:: Simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness

被引：28

作者：

Esmaeili, Mohsen

Bonyadi, Mortaza

Nejadkazem, Mohammad

机构：

[1] Univ Tabriz, Fac Nat Sci, Dept Genet, Tabriz, Iran

[2] Tabriz Univ Med Sci, Biotechnol Res Ctr, Drug Appl Res Ctr, Genet Lab, Tabriz, Iran

[3] Tabriz Univ Med Sci, Fac Med, Tabriz, Iran

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2007年 / 71卷 / 06期

关键词：

ARNSHL; 35delG; del(GJB6-D13S1830); Iranian population; consanguinity;

D O I：

10.1016/j.ijporl.2007.02.007

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Objective: DFNB1 locus has been reported as a major cause of autosomal recessive non-syndromic hearing toss (ARNSHL) worldwide. 35delG and del(GJB6-D13S1830) are thought to be two common mutations in this Locus among Caucasians. The aim of this study is to determine the significance of these two mutations in aetiotogy of ARNSHL in Iran. Methods: One hundred and thirty-three unrelated patients with ARNSHL were tested by using multiplex allele-specific PCR assay after validation by positive control samples. Results: The frequency of 35delG was about 18.5%, however, del(GJB6-D13S1830) was not found in the studied patients. Parental. consanguinity was observed in 50% of 35delG-mutated families. Conclusions: Our results support founder effect regarding these mutations. (c) 2007 Elsevier Ireland Ltd. All rights reserved.

引用

页码：869 / 873

页数：5

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