遗传 ›› 2014, Vol. 36 ›› Issue (11): 1112-1120.doi: 10.3724/SP.J.1005.2014.1112
袁慧军, 卢宇
收稿日期:2014-07-01
出版日期:2014-11-20
发布日期:2014-10-28
作者简介:作者/通讯袁慧军,博士,研究员,研究方向：聋病分子遗传学。Tel: 010-68156794
基金资助:Huijun Yuan, Yu Lu
Received:2014-07-01
Online:2014-11-20
Published:2014-10-28
摘要： 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。
袁慧军, 卢宇. 新一代测序技术在遗传性耳聋基因研究及诊断中的应用[J]. 遗传, 2014, 36(11): 1112-1120.
Huijun Yuan, Yu Lu. Application of next generation sequencing in gene identification and genetic diagnosis of hereditary hearing loss[J]. HEREDITAS(Beijing), 2014, 36(11): 1112-1120.
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