河北省秦皇岛市聋哑学校耳聋患者基因突变调查分析  

Genetic Mutations Among Patients From a Deaf-mute School in Qinhuangdao

作　　者：张华[1] 张昊昱[2] 张为霞[3] 朱俊真[2] ZHANG Hua ZHANG Haoyu ZHANG Weixia ZHU Junzhen(First Hospital of Qinhuangdao Three-Priorities Center, Hebei General Hospital Department ofSonography, Hebei General Hospital)

机构地区：[1]秦皇岛市第一医院 [2]河北省人民医院三优中心 [3]河北省人民医院超声科

出　　处：《中华耳科学杂志》2017年第3期310-313,共4页Chinese Journal of Otology

摘　　要：目的了解本地区常见耳聋致病基因突变情况。方法采用飞行时间质谱检测我国常见的GJB2、GJB3、SLC26A4与12Sr RNA四个基因的共20个位点。结果 46例耳聋患者中检出纯合突变8例(17.39%),复合杂合突变6例(13.04%),杂合突变9例(19.57%),总的检出率为50%。结论河北省秦皇岛市聋哑学校耳聋患者存在较高水平致病基因携带率,主要基因突变形式为纯合突变与复合杂合突变。及早进行耳聋基因检测,为受检者进行耐心、细致、准确的遗传咨询并提供干预措施是降低遗传性耳聋发病率的关键。Objective To investigate mutation of common deafness genes in the Qinhuangdao area.Methods Four genes（GJB2,GJB3,SLC26A4 and 12 Sr RNA,20 sites） commonly associated with deafness in China were tested via time of flight mass spectrometry.Results Among the 46 patients tested,23（50%） were found to have deafness gene mutations with 8 homozygotes（17.39%）,6 compound heterozygotes（13.04%） and 9 heterozygotes（19.57%）.Conclusions The rate of deafness gene carrier is high among deaf-mute school students in Qinhuangdao,showing mostly homozygous or compound heterozygous mutations.Genetic testing,thorough,careful and accurate genetic counseling,and effective intervention are the key to reducing incidence of hereditary deafness.

关 键 词：遗传性耳聋 GJB2基因 SLC26A4基因 线粒体DNA 突变 

分 类 号：R764[医药卫生—耳鼻咽喉科]