本文關(guān)鍵詞： 耳聾 基因芯片 GJB GJB SLCA mtDNA S rRNA　出處：《安徽醫(yī)科大學(xué)學(xué)報》2017年12期 　論文類型：期刊論文

【摘要】：目的應(yīng)用耳聾基因芯片技術(shù)研究142例安徽漢族遺傳性耳聾患兒常見耳聾基因的突變位點的分布特點。方法取患兒干血斑,提取DNA,用遺傳性耳聾基因檢測試劑盒(微陣列芯片法),檢測患兒GJB2、SLC26A4、GJB3和mtDNA 12s rRNA 4個耳聾相關(guān)基因的9個耳聾突變位點。結(jié)果142例遺傳性耳聾患兒中,檢出攜帶耳聾相關(guān)基因突變患兒68例(47.89%),GJB2、GJB3、SLC26A4、mtDNA 12s rRNA基因突變檢出率分別為28.17%(40/142)、0.70%(1/142)、18.31%(26/142)、5.63%(8/142)。結(jié)論 GJB2、SLC26A4、mtDNA 12s rRNA這3個基因是導(dǎo)致安徽漢族遺傳性耳聾患兒耳聾主要基因,其中GJB2的235del C、SLC26A4的ⅣS7-2AG、mtDNA 12s rRNA的1555AG是本研究組患兒最常見的致聾基因突變。
[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，

本文編號：1504473