318例中国汉族非综合征性耳聋患者基因突变谱分析

doi:10.3969/j.issn.1006-9771.2016.12.019

《中国康复理论与实践》 ›› 2016, Vol. 22 ›› Issue (12): 1451-1450.doi: 10.3969/j.issn.1006-9771.2016.12.019

318例中国汉族非综合征性耳聋患者基因突变谱分析

王屹¹,²，陈蕾¹,²，刘志忠¹,²，张海燕³，马娟³

1.中国康复研究中心北京博爱医院，北京市 100068；
2.首都医科大学康复医学院，北京市 100068；
3.北京毅新博创生物科技有限公司，北京市 100086。

收稿日期:2016-08-02 出版日期:2016-12-25 发布日期:2017-01-15
通讯作者: 刘志忠，男，博士，主任技师。E-mail: lzzlzb@126.com。
作者简介:王屹(1980-)，女，汉族，山西大同市人，博士，主治医师，主要研究方向：耳聋基因检测在疾病防控中的应用研究。
基金资助:
国家高技术研究发展计划(“863”计划)项目(No. 2014AA020901)。

Mutation Spectra of Genes in 318 Chinese Han Population with Nonsyndromic Hearing Loss　

WANG Yi ¹,², CHEN Lei ¹,², LIU Zhi-zhong¹,², ZHANG Hai-yan ³, MA Juan³

1. Beijing Bo'ai Hospital, China Rehabilitation Research Center, Beijing 100068, China；
2. Capital Medical University School of Rehabilitation Medicine, Beijing 100068, China；
3. Bioyong Technologies Inc., Beijing 100086, China

Received:2016-08-02 Published:2016-12-25 Online:2017-01-15
Contact: LIU Zhi-zhong. E-mail: lzzlzb@126.com

摘要/Abstract

摘要： 目的　应用基质辅助激光解析/离子化飞行时间质谱(MALDI-TOF MS)对先天性非综合征性耳聋患者进行耳聋基因筛查。方法　采集2015年10月~2016年4月318份先天性非综合征性耳聋患者抗凝静脉全血，应用多重聚合酶链式反应(PCR)和MALDI-TOF MS的方法进行中国人常见的四个耳聋基因GJB2、SLC26A4、GJB3、线粒体12Sr RNA共20个位点的突变检测。结果　共检出GJB2基因突变111例(34.9%)，其中235delC的突变携带率最高(25.47%)；SLC26A4基因突变43例(13.5%)；GJB3基因突变3例(0.94%)；线粒体12Sr RNA基因突变12例(3.77%)。结论　确定不同非综合征性耳聋人群相关基因突变谱，对于建立先天性耳聋患者理想的基因筛查方法意义十分重要。

关键词: 非综合征性耳聋, 基因突变, 基质辅助激光解析/离子化飞行时间质谱

Abstract: Objective To define the mutation spectra of deafness gene in 318 Chinese Han population with nonsyndromic hearing loss (NSHL).Methods From October, 2015 to April, 2016, anticoagulant venous whole blood of 318 patients with NSHL were collected. The genes including GJB2, SLC26A4, GJB3 and 12Sr RNA were detected with polymerase chain reaction (PCR) and Matrix Assisted Laser Desorption/Ionization Time-Of-Fight Mass Spectrometry (MALDI-TOF MS).Results Among these patient, 111 cases (34.9%) had GJB2 mutations, in which the mutation carrying rate of 235delC was the highest (25.47%), 43 cases (13.5%) had SLC26A4 mutations, 3 cases (0.94%) had GJB3 mutations, and 12 cases (3.77%) had mitochondria 12Sr RNA mutations.Conclusion Definition of mutation spectrum among different populations with NSHL is important for development of optimal genetic screening services for congenital hearing impairment.

Key words: nonsyndromic hearing loss, gene mutation, Matrix Assisted Laser Desorption/Ionization Time-Of-Fight Mass Spectrometry

中图分类号:

R246.81

王屹,陈蕾,刘志忠,张海燕，马娟. 318例中国汉族非综合征性耳聋患者基因突变谱分析[J]. 《中国康复理论与实践》, 2016, 22(12): 1451-1450.

WANG Yi , CHEN Lei , LIU Zhi-zhong, ZHANG Hai-yan , MA Juan. Mutation Spectra of Genes in 318 Chinese Han Population with Nonsyndromic Hearing Loss　[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2016, 22(12): 1451-1450.

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318例中国汉族非综合征性耳聋患者基因突变谱分析

Mutation Spectra of Genes in 318 Chinese Han Population with Nonsyndromic Hearing Loss

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