基础医学与临床 ›› 2019, Vol. 39 ›› Issue (2): 272-276.

• 短篇综述 • 上一篇    下一篇

全外显子组测序在肺癌的发病机制研究和诊治中的临床意义

唐永莉,张瑞涛   

  1. 三峡大学
  • 收稿日期:2017-11-09 修回日期:2018-03-26 出版日期:2019-02-05 发布日期:2019-01-16
  • 通讯作者: 张瑞涛 E-mail:zrt0116@126.com
  • 基金资助:
    以血凝素为靶点的H1N1流感病毒融合抑制剂的高通量筛选的方法学研究;全外显子组测序筛选双源癌家系的易感基因及其功能研究

Clinical significance of Whole exome sequencing in mechanism research and treament in lung cancer

  • Received:2017-11-09 Revised:2018-03-26 Online:2019-02-05 Published:2019-01-16

摘要: 全外显子组测序(WES)是利用序列捕获技术将全外显子区域DNA捕捉并富集后进行高通量测序的基因分析方法。外显子组测序较全基因组序列测序更简便、经济和高效,其目标区域覆盖度也更高,便于变异检测。外显子组测序技术已经应用到寻找与各种复杂疾病相关的致病基因和易感基因的研究中。肺癌是常见的恶性肿瘤之一,基于国内外对全外显子测序在肺癌中的研究成果,现就全外显子测序在肺癌的诊治,以及肺癌的发生机制的研究进行综述。

关键词: 全外显子组测序, 肺癌, 易感基因, 基因突变

Abstract: Whole exome sequencing (WES) is a gene analysis method that uses the sequence capture technique to capture and enrich the whole exon region DNA and perform high-throughput sequencing. WES can be used to detect genetic mutations associated with protein functional variability directly. Since the WES is sequenced only for the DNA of the exon region, it is much simple, more economical and efficient than the whole genome sequencing, and its target area coverage is higher, which is easy to detect. At present, WES has been applied to the study of pathogenic genes and susceptibility genes associated with various complex diseases such as lung cancer.In this paper, The clinical significance of WES in mechanism research and treament in lung cancer was been reviewed.

Key words: Whole exome sequencing, lung cancer, predisposing genes, genic mutation