母系遗传非综合征型聋相关线粒体DNA C1494T突变的全国性调查

The Rapid Screening for the Mitochondrial DNA C1494T Mutation in a Deaf Population in China Using Real-time Quantitative PCR

李琦;袁永一;黄德亮;韩东一;戴朴;

1:南京医科大学附属南京儿童医院耳鼻咽喉-头颈外科

2:中国人民解放军总医院耳鼻咽喉-头颈外科

摘要
目的应用实时荧光定量PCR(real-time-qPCR)对全国范围内的耳聋患者进行mtDNA C1494T的筛查,为进一步研究该突变和聋病的临床基因诊断提供帮助。方法收集国内25个不同省市的特教学校和聋哑学校的3 133例双侧重度或极重度非综合征型聋患者,提取外周血DNA,设计TaqMan-MGB的引物和探针进行real-time-qPCR,对所有阳性样本和随机抽取的495例阴性样本进行直接测序验证。结果 3 133例中,发现C1494T突变14例(14/3 133,0.45%),经测序验证全部为C1494T突变,495例阴性样本中均无C1494T突变。结论 Real-time-qPCR是进行mtDNA C1494T突变筛查的有效方法,中国耳聋人群中mtDNA C1494T的突变率较低。
关键词
实时荧光定量PCR;耳聋;线粒体DNA C1494T;突变;分子流行病学
基金项目(Foundation):
江苏省科教兴卫医学重点人才(RC2011028);; 卫生部行业科研专项基金(201202005);; 南京市医学科技发展基金重点项目(ZKX09009);; 国家自然科学基金(30572015,30728030,31071109)联合资助
作者
李琦;袁永一;黄德亮;韩东一;戴朴;
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