广东湛江遗传性耳聋分子流行病因学和快速检测方法的研究

发布时间：2018-06-23 23:29

  本文选题：遗传性耳聋 + 热点突变　； 参考：《广州中医药大学》2015年硕士论文

【摘要】：目的：调查位于中国南部的广东湛江遗传性耳聋的流行分子病因学,使其遗传性耳聋基因筛查更具靶向性,提高检出率；在保证敏感性和特异性的前提下,建立简便,廉价的耳聋基因诊断方法。方法：收集362份耳聋患者全血标本,选取16个耳聋相关位点,采用Taqman多重荧光定量方法对标本进行耳聋基因分型,并对其结果进行测序验证,进而应用统计学方法卡方检验分析数据。成果：对广州362份耳聋标本进行了中国国内遗传性耳聋热点突变的9个位点(GJB2：35de1G,235de1C,299-300delAT,176-19deAT; GJB3:538T; SLC26A4:919-2AG, 2168AG; MTDNA12srRNA:1555AG,1494CT)及新纳入7个耳聋位点热点突变：GJB2：105GA,OTOF5098C; TMC1:100CT; WFS1:2158AG,2146GA,2596GA; KCNQ4:827GC的基因筛查。9个国内遗传性耳聋热点突变位点中共检出6个,GJB2:235delC (6.08%),299-300delAT (0.83%); SLC26A4:919-2AG (5.25%),2168AG (1.1%); MTDNA12srRNA:1555AG (3.59%),1494CT (1.1%);新纳入的7个耳聋突变热点检出3个,GJB2:109GA (1.38%); WFS1:2158AG (8.84%); OTOF:5098GC (1.93%).其余位点：35de1G,176-191de116,538CT,100CT,2146GA,2596GA,827GC均未检出。最终建立了16个位点的Taqman多重荧光定量耳聋基因诊断方法。结论：对于9个国内目前的耳聋热点突变,广东湛江的遗传性耳聋热点突变与全国平均检出率不同,235de1C,919-2AG检出率均显著低于全国水平；另外7个耳聋位点中与听神经病相关的两个位点2158AG和5098GC呈现出较高的检出率,其中2158AG在所有检出位点中检出率最高；提示AN是不容忽视的群体,纳入湛江遗传性耳聋基因筛查；Taqman多重荧光定量方法是一个简单易操作,设备要求低,价格较低廉,敏感性和特异性均较好的检测方法。
[Abstract]:Objective: to investigate the epidemic molecular etiology of hereditary deafness in Zhanjiang, southern China, so as to make genetic screening of hereditary deafness more targeted and improve the detection rate. Cheap genetic diagnosis of deafness. Methods: 362 whole blood samples of deafness patients were collected and 16 deafness related loci were selected. The genotyping of deafness was performed by Taqman multiplex fluorescence quantitative method and the results were confirmed by sequencing. Then the statistical method was used to analyze the data by chi-square test. 鎴愭灉锛氬�瑰箍宸�362浠借，

本文编号：2058907