27个非综合征型遗传性聋家系GJB2、SLC26A4、线粒体DNA12S rRNA基因突变筛查  

Screening for GJB2,SLC26A4 and mitochondrial DNA12S rRNA genes mutations in 27 families with non-syndromic hearing loss

作　　者：王利伟 李建瑞[1] 刘涛[1] 严江伟 杨雅冉 WANG Liwei;LI Jianrui;LIU Tao;YAN Jiangwei;YANG Yaran(Department of Otolarynology,Chuiyangliu Hospital Affiliated to Tsinghua University,Beijing,100022,China;School of Forensic Medicine,Shanxi Medical University,Jinzhong,Shanxi,030600,China;State Key Laboratory of Molecular Developmental Biology,Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,Beijing,100101,China)

机构地区：[1]清华大学附属垂杨柳医院耳鼻咽喉头颈外科,北京100022 [2]山西医科大学法医学院,山西晋中030600 [3]中国科学院遗传与发育生物学研究所分子发育生物学国家重点实验室,北京100101

出　　处：《中国耳鼻咽喉头颈外科》2025年第1期22-26,共5页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：国家自然科学基金面上项目(30360109);北京市自然科学基金(7092049)。

摘　　要：目的对27个非综合征型遗传性聋家系进行GJB2、SLC26A4、线粒体DNA12S rRNA A1555G基因突变筛查,明确这些耳聋家系的遗传学病因。方法对27个耳聋家系的125名家系个体进行问卷调查、听力学检查、提取外周血DNA,扩增GJB2、SLC26A4、线粒体DNA12S rRNA A1555G编码区进行直接测序。结果共筛查出12个耳聋家系52名家系个体存在耳聋基因突变,在27个家系中的检出率为44%(12/27),在所有家系个体中检出率为42%(52/125)。GJB2基因突变检出率为31%(39/125),SLC26A4基因突变检出率为6%(8/125),线粒体DNA1555A>G突变检出率为4%(5/125)。结论遗传性聋家系中GJB2、SLC26A4、线粒体DNA 12S rRNA A1555G三个耳聋致病基因具有较高检出率,对这三个基因的突变筛查能明确大部分耳聋家系的遗传学病因,可作为遗传性聋家系基因筛查的对象。OBJECTIVE To screen for GJB2,mitochondrial DNA12S rRNA 1555A>G and SLC26A4 gene mutations in 27 non syndromic hereditary hearing loss families,clarify the genetic causes.METHODS 125 members from 27 deaf families were for questionnaire surveys,audiological examinations,and peripheral blood DNA extraction.The GJB2,SLC26A4,and mitochondrial DNA A1555G coding regions were amplified and directly sequenced.RESULTS Twelve families and 52 individuals were screened for deafness gene mutations,the detection rate in 27 families was 44%(12/27),and the detection rate in all the members was 42%(52/125).The detection rate of gene mutation for GJB2 is 31%(39/125),for SLC26A4 is 6%(8/125),and for mitochondrial DNA1555A>G mutation is 4%(5/125).CONCLUSION GJB2,SLC26A4 and mitochondrial A1555G have a high detection rate in families with hereditary deafness.Mutation screening of these three genes can clarify the genetic causes of most deafness families and can be used as genetic screening targets for hereditary deaf families.

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

分 类 号：R764.43[医药卫生—耳鼻咽喉科]