Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss
Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss
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DOI：
10.1016/j.ijporl.2011.11.018
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发表时间：
2012-02-01
影响因子：
1.5
通讯作者：
Dong, Jiashu
中科院分区：
文献类型：
--
作者：
Chen, Peiwei;Chen, Hui;Dong, Jiashu
目的：目的：探讨GJB 6基因突变在华中地区非综合征性耳聋人群中的分布情况。（GJB 6-D13 S1830）缺失，并对GJB 6全编码区进行测序。德尔本研究未发现GJB 6-D13 S1830等突变。提示GJB 6突变在华中地区人群中并不常见，GJB 6突变的筛查可列为非常规耳聋基因测试这个人群。(C)2011爱思唯尔爱尔兰有限公司保留所有权利。
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.