安徽汉族遗传性耳聋患儿142例基因芯片的筛查分析研究

发布时间：2018-02-12 01:28

  本文关键词： 耳聋 基因芯片 GJB GJB SLCA mtDNA S rRNA　出处：《安徽医科大学学报》2017年12期 　论文类型：期刊论文

【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ⅣS7-2AG、mtDNA 12s rRNA的1555AG是本研究组患儿最常见的致聋基因突变。
[Abstract]:Objective to study the distribution of mutation loci of deafness genes in 142 children with hereditary deafness in Anhui Han nationality by using the deafness gene chip technique. DNA was extracted, and 9 deafness mutation sites of 4 deafness related genes (GJB2SLC26A4, GJB3 and mtDNA 12s rRNA) were detected by microarray microarray assay kit. Results among 142 children with hereditary deafness, 9 mutation loci were found in the 4 deafness related genes (GJB2SLC26A4, GJB3 and mtDNA 12s rRNA). A total of 68 children with deaf-related gene mutations were detected. The positive rate of mutation in the 12s rRNA gene of GJB _ 2 GJB _ 3s SLC26A4ntDNA12s was 28.171740 / 142mDNA12s, respectively. The detection rates were 28.171740 / 142mtDNA12s rRNA, respectively. Conclusion the three genes, GJB2SLC26A4mtDNA12s rRNA, are the main genes leading to hereditary deafness in Anhui Han nationality. The 1555AG of GJB2's 235del Con SLC26A4 鈪，

本文编号：1504473