Qin Jianhua, Fung Yingsing, Lin Bingcheng
Dalian Institute of Chemical Physics, Chinese Academy of Sciences, Zhongshang Road 457, 116023 Dalian, China.
Expert Rev Mol Diagn. 2003 May;3(3):387-94. doi: 10.1586/14737159.3.3.387.
DNA diagnosis is experiencing an impressive progression towards the development of novel technology to identify various clinically relevant categories of genetic changes and to meet the exponential growth of genomics. The introduction of capillary electrophoresis has dramatically accelerated the completion of the first draft of the human DNA sequence in the Human Genome Project, and thus, has become the method of choice for analysis of various genetic variants. The recent development of microfabricated electrophoretic devices has led to the possibility of integrating multiple sample handling with the actual measurement steps required for automation of molecular diagnostics. This review highlights the most recent progress in capillary electrophoresis and electrophoretic microdevices for DNA-based diagnostics, including the important areas of genotyping for point mutation, single nucleotide polymorphisms, short tandem repeats and organism identification. The application of these techniques for infectious and genetic disease diagnosis, as well as forensic identification purpose, are covered. The promising development and the challenges for techinical problems are also discussed.
DNA诊断在开发用于识别各种临床相关基因变化类别以及满足基因组学指数增长的新技术方面正取得令人瞩目的进展。毛细管电泳的引入极大地加速了人类基因组计划中人类DNA序列初稿的完成,因此已成为分析各种基因变异的首选方法。微制造电泳设备的最新发展使得将多个样品处理与分子诊断自动化所需的实际测量步骤整合成为可能。本综述重点介绍了用于基于DNA的诊断的毛细管电泳和电泳微设备的最新进展,包括点突变基因分型、单核苷酸多态性、短串联重复序列和生物识别等重要领域。还涵盖了这些技术在传染病和遗传疾病诊断以及法医鉴定目的中的应用。同时也讨论了其前景发展和技术问题面临的挑战。