新一代测序技术在遗传性耳聋基因研究及诊断中的应用

Application of next generation sequencing in gene identification and genetic diagnosis of hereditary hearing loss

超过50%的耳聋由遗传基因缺陷所致,伴随着基因组学技术的发展,耳聋分子遗传学研究逐渐成为耳科学研究的前沿领域。新一代高通量测序技术的出现,提供了以数据为导向的新的遗传性疾病研究模式,革新了人们对遗传性疾病的认识过程,使得对遗传性疾病的研究策略也发生了重大转变。近年来新一代测序技术(Next generation sequencing,NGS)在耳聋研究中的应用,大大加快了耳聋基因发现的速度,并逐渐向临床应用方向转化。文章总结了遗传性耳聋的特点和研究现状,以及新一代测序技术在耳聋研究中的应用和前景,以及基于NGS技术的耳聋基因研究和临床耳聋基因诊断的发展方向。

More than 50% cases with hearing loss are caused by genetic defects. With the development of genom- ics technology, molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. The next generation sequencing has provided a new model originated from sequencing data to genetic disease study, and has made a revolutionary change in the strategy of gene identification for genetic diseases. Due to the application of next generation sequencing technology, gene identification of hearing loss has been accelerated in recent years, and moreover, the new technology and strategy were explored to clinical application. In this review, we briefly introduce the current situation of hereditary hearing loss research, and the application and perspective of next generation se- quencing in this field.