CAJ | 학술논문

目的：探讨基因芯片技术在耳聋基因筛查的临床应用价值，了解沈阳地区非综合征性耳聋患者致病基因的分子特征。方法采集沈阳地区门诊或病房散发的非综合征性耳聋患者100例的外周血并提取DNA ，应用晶芯遗传性耳聋基因芯片试剂盒检测GJB2、GJB3、SLC26A4和线粒体12SrRNA 4个常见耳聋基因中的9个突变位点。结果在100例患者中，36例耳聋患者检出遗传性耳聋基因突变，检出阳性率为36．0％（36/100）；其中GJB2、SLC26A4、线粒体12S rRNA 和 GJB3基因突变的阳性检出率分别为20．0％（20/100）、14．0％（14/100）、2．0％（2/100）和0．0％（0/100）。检出致聋基因突变型19例，占被检出阳性总数的52．8％（19/36），杂合基因突变型17例，占被检出阳性总数的47．2％（17/36）。结论中国人常见的4个致聋基因突变在沈阳地区人群中除GJB3外都有一定的检出率。
목적：탐토기인심편기술재이롱기인사사적림상응용개치，료해침양지구비종합정성이롱환자치병기인적분자특정。방법채집침양지구문진혹병방산발적비종합정성이롱환자100례적외주혈병제취DNA ，응용정심유전성이롱기인심편시제합검측GJB2、GJB3、SLC26A4화선립체12SrRNA 4개상견이롱기인중적9개돌변위점。결과재100례환자중，36례이롱환자검출유전성이롱기인돌변，검출양성솔위36．0％（36/100）；기중GJB2、SLC26A4、선립체12S rRNA 화 GJB3기인돌변적양성검출솔분별위20．0％（20/100）、14．0％（14/100）、2．0％（2/100）화0．0％（0/100）。검출치롱기인돌변형19례，점피검출양성총수적52．8％（19/36），잡합기인돌변형17례，점피검출양성총수적47．2％（17/36）。결론중국인상견적4개치롱기인돌변재침양지구인군중제GJB3외도유일정적검출솔。
Objective To investigate the clinical application value of gene chip technique in screening genetic deafness ,and to understand the molecular characteristics of patients with nonsyndromic hearing impairment in Sheny-ang .Methods DNA samples were extracted from peripheral blood of 100 cases of clinical and ward sporadic nonsyn-dromic deafness patients in Shenyang ,and detected for 9 mutations of 4 common deafness genes ,including GJB2 , GJB3 ,SLC26A4 and mitochondrial 12S rRNA by gene chip kits .Results In 100 deafness patients ,36 cases were pos-itive with genetic deafness mutations ,and the positive rate was 36 .0% (36/100) ,wherein the positive rates of muta-tion in GJB2 ,SLC26A4 ,mitochondrial 12S rRNA and GJB3 respectively were 20 .0% (20/100) ,14 .0% (14/100) , 2 .0% (2/100) and 0 .0% (0/100) .There were 19 cases positive with deafness gene mutation type ,accounting for 52 .8% (19/36) ,and 17 cases positive with heterozygous mutation type ,accounting for 47 .2% (17/36) .Conclusion Except for GJB3 gene ,the other three deafness gene mutations could be detected in population of Shenyang .