南通地区感音神经性耳聋患者GJB2基因分析  

Analysis on GJB2 gene mutation in sensorineural hearing loss in Nangtong district

作　　者：王强[1] 邢光前[2] 尤易文[1] 严勇兵[1] 

机构地区：[1]南通大学附属医院耳鼻喉科,226001 [2]江苏省人民医院耳鼻喉科

出　　处：《江苏医药》2010年第12期1365-1367,共3页Jiangsu Medical Journal

基　　金：江苏省人民医院"科教兴卫"重点学科开放课题(kf200911);南通市社会发展科技计划(s2008016)

摘　　要：目的了解南通地区感音神经性耳聋人群的GJB2基因突变率及突变类型。方法选择南通地区聋哑学校150例重度-极重度感音神经性耳聋学生外周血中提取白细胞DNA,以PCR法进行GJB2基因编码区测序及序列分析。结果 19.33%(29/150)学生的耳聋是由GJB2突变(双等位基因突变)引起,还有8.67%(13/150)的耳聋学生携带GJB2单杂合突变。结论明确GJB2基因突变致聋对评估人工耳蜗植入后疗效及通过婚育指导来减少聋儿产生有重要意义。Objective To investigate the frequency and features of GJB2 gene mutation in the patients with sensorineural hearing loss in Nangtong district.Methods GJB2 gene was detected by PCR method in 150 patients with severe sensorineural hearing loss from Nantong Deaf and Dumb School.Peripheral blood 3-5 ml was collected for DNA extraction.The code region was amplified and sequenced.Results The sequencing results revealed that 42（28%） cases carried GJB2 gene mutations,of which 29（19.33%） cases carried bi-allelic mutations and 13 cases（8.67%） carried single allelic mutation.Conclusion Testing for GJB2 gene mutations is an effective method to estimate the efficacy of cochlear implantation and to reduce the incidence of hereditary hearing loss.

关 键 词：耳聋 GJB2基因 基因突变 

分 类 号：R764[医药卫生—耳鼻咽喉科]