太原地区200例非综合征型耳聋致病基因突变分析  

Mutation analysis of deafness gene for 200 non-syndromic hearing loss in Taiyuan

作　　者：栗向韶[1] 李超[2] 周永安[1] 王湘[1] 李敏[2] 郝子琪[1] 李娇[1] 李鹏丽[1] 田树雄 侯霞[2] 

机构地区：[1]太原市中心医院,山西太原030009 [2]山西医科大学研究生院,太原030001

出　　处：《中国优生与遗传杂志》2017年第9期88-90,共3页Chinese Journal of Birth Health & Heredity

基　　金：山西省社会发展科技计划资助项目(20140313018-6)

摘　　要：目的通过对太原市200例非综合征型耳聋患者常见基因GJB2、GJB3、SLC26A4和线粒体DNA 12S r RNA 4个基因20个位点的检测分析,研究该地区耳聋基因的突变情况及热点突变位点,为当地大规模开展耳聋基因筛查提供依据。方法收集太原市特殊教育学校的200例非综合征耳聋患者的外周血样本,提取DNA后对常见耳聋基因进行基质辅助激光解吸电离飞行时间质谱法检测,并对突变位点进行测序验证。结果 200例耳聋患者中GJB2基因检测到73例发生突变,SLC26A4基因64例发生突变,线粒体DNA 12S r RNA 1555A>G检测到6例发生突变。而GJB3基因和线粒体DNA 12S r RNA 1494C>T未检测到突变。结论 GJB2和SLC26A4基因在太原市耳聋患者中具有较高的携带率。通过对太原市常见耳聋基因突变位点的研究,了解该地区的耳聋基因突变谱,为后续国内耳聋基因型分布提供数据支持,同时也为耳聋的早期诊断,治疗提供理论依据。Objective：Detect the GJB2,GJB3 and SLC26A4 and mitochondrial DNA 12 sr RNA of the 200 DNA samples selected from 200 patients with non-syndromic hearing loss in Taiyuan,study the hot spot mutations of deafness gene and provide the basis for the local large-scale deafness gene detecting. Methods：Collect 200 peripheral blood samples from non-syndromic deafness patients in the special education school of Taiyuan city and detect the common deafness gene by matrix assisted laser desorption ionization time of flight mass spectrometry and sequencing of mutations after extracting DNA. Results：In the study,GJB2 mutation was found in 73 patients and SLC26A4 mutation was detected in 64 cases. 1555A〉G was detected in 6 patients.GJB3 and 1494C〉T were not found. Conclusion：GJB2 and SLC26A4 are high mutation rate gene in Taiyuan deafness patients. Basis are provided for early diagnosis and treatment for deafness in Shanxi province by analyzing the mutations from the 4 common causative genes leading to deafness.

关 键 词：非综合征型耳聋 基因 GJB2 SLC26A4 突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]