应用耳聋基因芯片检测技术筛查重度耳聋儿童及其父母的遗传性基因缺陷  

An application of DNA microarray in screening in severe hearing loss of children and their parents

作　　者：黄秋红[1] 区永康[1] 张志钢[1] 邹建华[2] 赖学华[3] 郑亿庆[1] 

机构地区：[1]中山大学附属第二医院耳鼻咽喉科,广州510120 [2]广东省残疾人康复中心 [3]博奥生物有限公司暨生物芯片北京国家工程研究中心

出　　处：《中国中西医结合耳鼻咽喉科杂志》2011年第1期9-11,14,共4页Chinese Journal of Otorhinolaryngology in Integrative Medicine

摘　　要：目的应用耳聋基因芯片对非综合征性感音神经性聋儿童及其家庭成员进行耳聋相关基因检测,探讨其在临床筛查中的可行性。方法选择来自广东省聋儿康复中心的30个非综合征性耳聋患儿及其父母,应用耳聋基因芯片对该30个家庭进行耳聋相关基因检测。结果采用基因芯片对这30个家庭进行遗传性耳聋基因的快速筛查,其中8个家庭有阳性结果,筛查出的阳性率为26.7%。有2例为GJB2基因235delC位点纯合突变,其中有1例混有IVS7-2位点杂合突变(PDS基因);有2例为GJB2基因235delC位点和299del AT复合杂合突变;有1例为GJB2基因176del16位点杂合突变;有1例为1494C>T位点均质突变(线粒体12S rRNA);有2例为PDS基因IVS7-2位点杂合突变。结论应用基因芯片可以高效、快速地在人群中,尤其是聋儿患者中进行大规模的筛查。Objective To detect the inherited genetic defects children with severe sensorineural hearing loss （NSHL） and their parents using DNA microarray, and investigate the feasibility ofa DNA microarray. Methods 30 children with NSHL and their family were detected with the DNA microarray which is able to perform mutation detection of 9 hot - spot mutations in four most common pathologic genes, including GJB2 （ 35delG, 176del16bp, 235delC,299_300delAT）, GJB3（ 538C〉T, 547G〉A）, SLC26A4（ IVST- 2A〉G, 2168A〉G） and mitochondrial 12S rRNA（A1555G） simultaneously. Results 8 of 30 patients were carriers with at least one pathogenic gene mutation, the positive rate was 26.7%. Among them, 2 cases were GJB2 235delC homozygous mutations, 2 were GJB2 235delc and 299del AT mutations, lwas GJB2 176de116 heterozygous mutations, 1 was 1494C〉T mutation and 2 were PDS IVS7-2 heterozygous mutations. Conclusion DNA microarray is feasible, highly efficient and rapid in screening in patients with NSHL.

关 键 词：耳聋 基因芯片 筛查 GJB2 PDS GJB3 线粒体 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]