安徽汉族遗传性耳聋患儿142例基因芯片的筛查分析研究

目的 应用耳聋基因芯片技术研究142例安徽汉族遗传性耳聋患儿常见耳聋基因的突变位点的分布特点.方法 取患儿干血斑,提取DNA,用遗传性耳聋基因检测试剂盒(微阵列芯片法),检测患儿GJB2、SLC26A4、GJB3和mtDNA 12s rRNA 4个耳聋相关基因的9个耳聋突变位点.结果 142例遗传性耳聋患儿中,检出携带耳聋相关基因突变患儿68例(47.89％),GJB2、GJB3、SLC26A4、mtDNA 12s rRNA基因突变检出率分别为28.17％(40/142)、0.70％(1/142)、18.31％(26/142)、5.63％(8/142).结论 GJB2、SLC26A4、mtDNA 12s rRNA这3个基因是导致安徽汉族遗传性耳聋患儿耳聋主要基因,其中GJB2的235delC、SLC26A4的IVS7-2A＞G、mtDNA 12s rRNA的1555A＞G是本研究组患儿最常见的致聋基因突变.

Analysis and study of genetic screening in 142 children with hereditary deafness in Anhui

Objective To investigate the distribution of common deafness genes in 142 cases of hereditary hearing loss in Anhui Han population by gene chip technique.Methods Children's blood spot were collected and the DNA was extracted,then 9 mutations in GJB2,SLC26A4,GJB3 and mtDNA 12s rRNA deafness genes in the children were detected by using genetic deafness gene detection kit (microarray chip method).Results Of the 142 children with hereditary deafness,68 children with deafness-related gene mutations were detected (47.89％).The mutation rates of GJB2,GJB3,SLC26A4,mtDNA 12S rRNA were 28.17％ (40/142),0.70％ (1/142),18.31％ (26/142),5.63％ (8/142),respectively.Conclusion GJB2,SLC26A4,mtDNA 12S rRNA are the main genes leading to deafness in children with hereditary deafness in Anhui Han nationality,The GJB2 gene 235delC and SLC26A4 gene IVS7-2A ＞ G and mtDNA 12s rRNA gene 1555A ＞ G is the most common mutations of deafness gene in this study group.