非综合征性耳聋人工耳蜗植入者的基因分析  

Analysis of genetic mutation in patients with nonsyndromic hearing loss received cochlear implant

作　　者：田永胜[1] 陈晓巍[1] 曹克利[1] 陈东野[1] 左瑾[2] 方福德[2] 

机构地区：[1]中国医学科学院中国协和医科大学 北京协和医院耳鼻咽喉科,100730 [2]中国医学科学院中国协和医科大学基础所 方福德实验室

出　　处：《中华医学杂志》2007年第16期1093-1096,共4页National Medical Journal of China

基　　金：国家自然科学基金(30271401)

摘　　要：目的研究连接蛋白26(Connexin26)基因(GJB2)突变和线粒体12S rRNA 基因突变在人工耳蜗植入的非综合征性耳聋患者中发生的几率及特性。方法选取100例接受人工耳蜗植入患者,语前聋为96例,语后聋为4例。自外周静脉血中提取总 DNA,进行 GJB2基因和线粒体12S rRNA基因核苷酸 PCR,对扩增的基因片段进行测序,检测 GJB2基因突变和线粒体12S rRNA 基因突变。结果接受人工耳蜗植入的非综合征性耳聋病例中发现 GJB2基因突变率最高,为34%(34/100)。其突变类型主要为235delC,占27%;同时有氨基糖甙类药物使用史的16例病例中发现2例有线粒体12S rRNA 基因 A1555G突变,1例有线粒体12S rRNA 基因突变 delT961Cn。结论 GJB2基因突变在人工耳蜗植入的患者中发生率最高,235delC 是主要突变类型,有氨基糖甙类药物应用史的语后聋患者中线粒体12S rRNA 基因突变 A1555G 为常见突变形式。Objective To investigate the prevalence of mutations of the gap junction protein （GJB）2 and mitochondria 12SrRNA in patients with nonsyndromic hearing loss who received cochlear implant. Methods Genomic DNA was extracted from the peripheral blood samples obtained from 100 Chinese patients who had received cochlear implantation, 96 with prelingual hearing loss and 4 with postlingual hearing loss, all very severe. Sixteen of the 100 patients had the history of application of aminoglycosides, among which 12 were with prelingual hearing loss and 4 with postlingual hearing loss. PCR was performed and the products were sequenced by automated DNA sequencer. Results GJB2 mutations were detected in 34 of the 100 cochlear implant recipients （34%）, all with prelingual hearing loss, among which 27 （27%） had 235delC mutation. Among the 16 patients who had used aminoglycosides, two had the mutation A1555G, and one carried the mitochondrial genetic mutation delT961Cn. Conclusion Mutation of GJB2 gene is the major cause of deafness in cochlear implant recipients, with a high frequency of 235delC mutation. Mitochondria genetic mutation A1555G is the common form of mutation in postlingual deafness with a history of aminoglycoside injection.

关 键 词：耳蜗植入 突变 线粒体 聋 GJB2 

分 类 号：R764[医药卫生—耳鼻咽喉科]