线粒体DNA A1555G遗传学及起源性分析

耳聋预防是无数医学科学工作者和成千上万患者及其家庭的世纪梦想，随着基因组医学的迅猛发展，其梦想成真之时指日可待。本课题在全国性大规模耳聋分子流行病学调查和临床耳聋基因诊断研究基础上，对中国人线粒体基因突变致聋（特别是A1555G突变）的分子致病机制进行较为详细的研究，利用荧光实时定量PCR技术对新发生A1555G突变和异质性突变的母系成员进行全面分析，确定A1555G是否存在新发突变；利用大规模平行测序技术对所有A1555G患者及相关母系成员进行线粒体12S rRNA全序列分析，进行单倍体分型，分析A1555G突变发生的结构机制。研究结果将用于指导耳聋，尤其是药物性耳聋的临床诊断和干预，为实现预防耳聋发生、减少耳聋出生缺陷提供理论基础和技术支持。

Sensorineural hearing loss affects the ability of communication and quality of life of millions of people. Prevention of its occurrence is the key to solving this problem. However, the majority of hearing defect cases are considered idiopathic and their genetic basis remain unknown. Based upon the accomplishment of nationwide molecular epidemiological investigation of hearing loss, we are going to make further research on comprehensive molecular pathogenesis for Chinese deaf population.The techniques ofReal-time PCR, massively parallel sequencing will be used in our cohorts.The outcome of this study will provide fundamental basis of clinical diagnosis and intervention of deafness.