摘要
目的分析非综合征型耳聋患者常见耳聋基因突变情况,探讨遗传性耳聋基因芯片检测的临床意义。方法 2013年3-8月来自沈阳市和平区残联的非综合征型耳聋患者240例,患者或监护人签署知情同意后提取被检者外周静脉血基因组DNA,采用晶芯?遗传性耳聋基因检测试剂盒对常见的4个耳聋基因(GJB2、GJB3、SLC26A4以及线粒体12S rRNA)的9个突变位点进行检测。结果 240例受检者中,102例存在被检测基因突变,其中GJB2基因突变44例(18.33%,44/240),SLC26A4基因突变38例(15.83%,38/240),线粒体12S rRNA基因突变17例(7.08%,17/240),GJB3 538 C>T 1例(0.39%,1/240)。明确诊断为遗传性耳聋60例,提示遗传性耳聋42例,占全部耳聋患者的42.5%(102/240)。结论非综合征型耳聋患者耳聋基因携带率较高,对高危人群进行耳聋基因突变的筛查和遗传咨询是防止和控制遗传性耳聋、优生优育的重要步骤。
Objective To investigate the incidence of common deafness gene mutations in patients with non-syndromic deafness. Methods The genomic DNA of 240 deafness patients were extracted from their peripheral blood. The hot-spot deafness gene mutations, including GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA genes, were detected using a nine deafness gene mutations detection kit. Results Various types of gene locus mutations were detected in 102 of the 240 patients, including 44 GJB2 gene mutations （18.33%, 44/240）, 38 SLC26A4 gene mutations （15.83%, 38/240）, 17 mitochondrial 12S rRNA gene mutations （7.08%, 17/240）. The diagnosis results suggested that 60 cases were sure to be hereditary hearing loss and 42 cases were suspected hereditary hearing loss, which accounted for 42.5% （102/240） of the total. Conclusion Non-syndromic deafness patients have a high ratio of carrying deafness gene, and molecular genetic screening for these hot-spot mutations is a pivotal step for the prevention and control of genetic deafness.
出处
《解放军医学院学报》
CAS
2014年第10期1019-1021,共3页
Academic Journal of Chinese PLA Medical School
