人工耳蜗植入者线粒体12SrRNA基因突变的分析  

Mutation of the mitochondrial 12S rRNA gene in cochlear implant recipients

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

机构地区：[1]中国医学科学院北京协和医学院北京协和医院耳鼻喉科,100730 [2]基础医学研究所/医学分子生物学国家重点实验室

出　　处：《中国医药生物技术》2008年第3期169-172,共4页Chinese Medicinal Biotechnology

基　　金：国家自然科学基金(30271401)

摘　　要：目的研究接受人工耳蜗植入的耳聋患者中,线粒体12SrRNA基因突变的类型和发生概率。方法选取100例接受人工耳蜗植入的非综合征性耳聋患者(语前聋96例,语后聋4例;氨基糖苷类药物使用史者16例),取外周血提取基因组DNA,以PCR方法扩增线粒体12SrRNA基因,扩增产物纯化后直接测序分析突变。结果100例患者中有2例检测到线粒体12SrRNA基因1555A>G纯合突变,1例检测到delT961Cn杂合突变,致病基因突变总检出率为3%。结论在所研究的人工耳蜗植入群体中,线粒体12SrRNA基因突变不是主要的致聋病因。Objective To investigate the prevalence and types of the mutation of mitochondrial 12S rRNA in cochlear implant recipients. Methods A total of 100 Chinese patients with non-syndromic hearing impairment （96 with pre-lingual hearing loss and 4 with post-lingual hearing loss）, who had received cochlear implantation, were enrolled in this study. Genomic DNA was extracted from the peripheral blood of the patients. After PCR amplification and purification, the mitochondrial 12S rRNA fragment was sequenced. Results Among the 100 cases, 1555A〉G mutation was found in 2 cases, and delT961Cn mutation was detected in 1. The overall rate of detection of pathogenic gene was 3%. Conclusion Mutation of mitochondrial 12S rRNA is not the main cause of hearing impairment in cochlear implant recipients.

关 键 词：突变 线粒体 基因 RRNA 听觉丧失 耳蜗植入术 

分 类 号：R764[医药卫生—耳鼻咽喉科]