遗传 ›› 2017, Vol. 39 ›› Issue (3): 208-219.doi: 10.16288/j.yczz.16-376

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高通量测序技术在遗传性耳聋研究中的应用及研究进展

王翠翠(),袁慧军()   

  1. 第三军医大学第一附属医院医学遗传中心,重庆400038
  • 收稿日期:2016-11-07 修回日期:2017-01-11 出版日期:2017-03-20 发布日期:2017-02-10
  • 作者简介:王翠翠,博士,研究方向:遗传性耳聋的相关研究。E-mail: cuicuiwang_169@163.com|袁慧军,博士,教授,研究方向:聋病分子遗传学。E-mail: yuanhj301@163.com
  • 基金资助:
    国家自然科学基金项目(81530031)

Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss

Wang Cuicui(),Yuan Huijun()   

  1. Medical Genetics Center, First Affiliated Hospital of the Third Military University, Chongqing 400038, China
  • Received:2016-11-07 Revised:2017-01-11 Online:2017-03-20 Published:2017-02-10
  • Supported by:
    the Natural Science Foundation of China(81530031)

摘要:

耳聋是一种常见的严重出生缺陷,阐明遗传性耳聋的致病机理不仅能够在临床上辅助诊断,为遗传咨询及耳聋预防提供依据,而且能促进人们更深入地了解耳聋的致病机制,开发新的治疗方法。随着基因组研究技术不断创新,以全基因组测序、全外显子组测序、目标区域测序为代表的高通量测序技术在遗传性耳聋研究中已得到广泛应用。本文总结了近5年全外显子组测序和目标区域测序在遗传性耳聋致病基因研究及临床分子诊断中应用及研究进展,希望能够有助于我国临床耳聋基因诊断技术的发展及诊断水平的提升。

关键词: 遗传性耳聋, 致病基因, 全外显子组测序, 目标区域测序

Abstract:

Hearing loss (HL) is the most common birth defect. Elucidating the genetic basis of hereditary deafness can not only assist diagnosis, provide the basis for genetic counseling and the prevention of deafness, but also bring a deeper understanding of the disease pathogenesis. In the genomic era, high-throughput sequencing technologies, represented by whole genome sequencing (WGS), whole exome sequencing (WES) or target region sequencing, have been widely used in the studies of hereditary HL. Here, we summarize the application and progress of WES and target region sequencing in the research of causative genes and clinical molecular diagnosis of hereditary HL, hoping to be helpful for the development and improvement of clinical genetic diagnosis of deafness in China.

Key words: hereditary hearing loss, causative genes, whole exome sequencing, target region sequencing