自然杂志 ›› 2019, Vol. 41 ›› Issue (6): 439-443.doi: 10.3969/j.issn.0253-9608.2019.06.007

• 专题综述 • 上一篇    下一篇

全外显子测序在糖尿病中的应用

宗奕岑，胡承，贾伟平   

  1. 上海交通大学附属第六人民医院，上海市糖尿病研究所，上海市糖尿病重点实验室，上海 200233
  • 收稿日期:2019-08-05 出版日期:2019-12-20 发布日期:2019-12-20
  • 通讯作者: 贾伟平，研究方向：糖尿病、肥胖症的发病机制。

Application of the whole-exome sequencing in diabetes mellitus

  1. Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Diabetes institude, Shanghai Jiao Tong University Affiliated Sixth People’s
    Hospital, Shanghai 200233, China
  • Received:2019-08-05 Online:2019-12-20 Published:2019-12-20

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摘要： 糖尿病是一组由于胰岛素分泌缺陷或生物作用受损引起的以高血糖为特征的代谢性疾病，可导致各种组织尤其是眼、肾、心脏、血管、神经的慢性损害及功能障碍。糖尿病的发病机制非常复杂，其中遗传因素在糖尿病的发病过程中起着至关重要的作用。全外显子组测序是指利用序列捕获技术将全基因组外显子区域DNA捕捉并富集后，进行高通量测序的基因组分析方法。基于其高特异性、高准确性和高覆盖度的优点，全外显子测序已在复杂疾病如糖尿病、肥胖等疾病易感基因的识别方面发挥了巨大作用。文章综述了全基因组外显子测序技术在糖尿病的遗传易感基因及其编码变异筛选中的应用。

关键词: 全外显子测序, 高通量测序, 生物学分析, 糖尿病, 精准医学

Abstract: Diabetes is a metabolic diseases characterized by hyperglycemia caused by defective insulin secretion or impaired biological effects, which can lead to chronic damage and dysfunction of various tissues, especially eyes, kidneys, heart, blood vessels
and nerves. Among the complex pathogenesis of diabetes, genetic factors play an essentical and irreplaceable role. Whole-exome
sequencing (WES) is a high throughput sequencing method for genome analysis, which captures and enriches the exon region DNA of the whole genome for sequencing by the sequence capture technology. Based on its advantages of high specificity, high accuracy and high coverage, whole-exome sequencing has a great impact on the identification of susceptibility genes for complex diseases such as diabetes and obesity. This paper reviews the application of whole-exome sequencing in screening genetic susceptibility genes and coding variations of diabetes mellitus.

Key words: whole-exome sequencing, high-throughput sequencing, biological analysis, diabetes, precision medical

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