检验医学与临床Issue(8)：1018-1019,1022,3.DOI:10.3969/j.issn.1672-9455.2014.08.005
沈阳地区非综合征性耳聋患者的基因芯片检测结果分析
Genetic analysis of patients with nonsyndromic hearing impairment in Shenyang
摘要
Abstract
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 .关键词
非综合征性耳聋/基因芯片/突变分析/GJB2/SLC26A4Key words
nonsyndromic hearing impairment/gene chip/mutation analysis/GJB2/SLC26A4引用本文复制引用
赵连爽,陈昕,代娣,郭晓临..沈阳地区非综合征性耳聋患者的基因芯片检测结果分析[J].检验医学与临床,2014,(8):1018-1019,1022,3.基金项目
辽宁省社会发展基金资助项目（2011225019）。 （）
