Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

被引：9

作者：

Chen, Peiwei ^{[2
]}

Chen, Hui ^{[2
]}

Fu, Siqing ^{[1
]}

Chen, Guanming ^{[3
]}

Dong, Jiashu ^{[4
]}

机构：

[1] Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China

[2] Cent Hosp Enshi Tujia & Miao Autonomous Prefectur, Dept Pediat, Enshi 445000, Hubei Province, Peoples R China

[3] Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Otolarygol, Tongji Hosp, Wuhan 430030, Peoples R China

[4] Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2012年 / 76卷 / 02期

关键词：

GJB6; gene; del(GJB6-D13S1830); Non-syndromic hearing loss; Chinese population; 26 GENE GJB2; CONNEXIN-30; GENE; HUBEI PROVINCE; HIGH-FREQUENCY; DEL(GJB6-D13S1830); DEAFNESS; INDIVIDUALS; IMPAIRMENT; FAMILIES; ETIOLOGY;

D O I：

10.1016/j.ijporl.2011.11.018

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Objective: To investigate the distribution of GJB6 mutations in Central Chinese population with nonsyndromic hearing loss. Method: Totally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region. Result: The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort. Conclusion: The results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

引用

页码：265 / 267

页数：3

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