国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 154-156.

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二代测序技术与临床应用

高超，沈鉴东，崔毓桂   

  1. 210029 南京医科大学第一附属医院生殖医学科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 崔毓桂

Clinical Application of the Next-Generation Sequencing Technology

GAO Chao，SHEN Jian-dong，CUI Yu-gui   

  1. Center of Reproductive Medicine，the First Affiliated Hospital of Nanjing Medical University，Nanjing 210029，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: CUI Yu-gui

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摘要： 近年来随着二代测序技术的蓬勃发展，使得高通量的基因测序技术日臻成熟，逐渐从常规基础科研实验室的应用转入临床医学的应用，测序技术原理的不断创新和工程材料应用瓶颈的不断突破使得高通量的基因序列读取趋于个体化需求的应用。阐述二代测序技术发展历程，针对目前国际市场上较为先进并占主流优势的测序产品进行简要描述，详细介绍Life Tech公司推出的Ion Torrent测序平台，阐明其基本技术原理和操作过程及相应的性能特点，列举了二代测序技术在临床应用方面的具体信息，并对二代测序技术在临床应用方面的前景进行了展望。广泛的应用前景和各类挑战并存是当下二代测序技术应用于临床的现实特征。

关键词: 序列分析, 分子诊断技术, 遗传学技术

Abstract: In recent years, the sequencing technology has been innovated following the breakthrough of the engineering material bottleneck. The high-throughput gene-sequencing technology matured gradually made the transformation from routine and basic research laboratory to clinical practice, because the next-generation sequencing(NGS) technology met the needs of individual diagnosis and treatment. In this paper, the developing progress of NGS technology, and operational process, were introduced. Those mainstream products in the international market at present were also introduced. The Ion Torrent sequencing platform of Life Tech Company was introduced in detail, including its basic principle, laboratory protocol, coefficient of performance and clinical application. This paper also provided some examples to show the specific significance in clinical application and potential insufficient of NGS technology.

Key words: Sequence analysis, Molecular diagnostic techniques, Genetic techniques