安徽汉族遗传性耳聋患儿142例基因芯片的筛查分析研究  

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

作　　者：徐彬[1] 余元勋[1] 李建平[1] 王迎新[1] 刘萍[1] 张立[1] 方佩斐 

机构地区：[1]安徽医学高等专科学校省遗传医学中心,合肥230061

出　　处：《安徽医科大学学报》2017年第12期1849-1853,共5页Acta Universitatis Medicinalis Anhui

基　　金：安徽高校省级自然科学研究项目(编号:KJ2014A128)

摘　　要：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235del C、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。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,SLC26 A4,GJB3 and mtDNA 12 s 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,SLC26 A4,mtDNA 12 S rRNA were 28. 17%（40/142）,0. 70%（1/142）,18. 31%（26/142）,5. 63%（ 8/142）,respectively. Conclusion GJB2,SLC26 A4,mtDNA 12 S rRNA are the main genes leading to deafness in children with hereditary deafness in Anhui Han nationality,The GJB2 gene 235 del C and SLC26 A4 gene ⅣS7-2 A G and mtDNA 12 s rRNA gene 1555 A G is the most common mutations of deafness gene in this study group.

关 键 词：耳聋 基因芯片 GJB2 GJB3 SLC26A4 MTDNA 12S rRNA 

分 类 号：R969.3[医药卫生—药理学]