Csako Gyorgy
Department of Laboratory Medicine, W.G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1508, USA.
Clin Chim Acta. 2006 Jan;363(1-2):6-31. doi: 10.1016/j.cccn.2005.07.009. Epub 2005 Aug 18.
Behind the success of 'completing' the human genome project was a more than 30-year history of technical innovations for nucleic acid testing.
Discovery of specific restriction endonucleases and reverse transcriptase was followed shortly by the development of the first diagnostic nucleic acid tests in the early 1970s. Introduction of Southern, Northern and dot blotting and DNA sequencing later in the 1970s considerably advanced the diagnostic capabilities. Nevertheless, it was the discovery of the polymerase chain reaction (PCR) in 1985 that led to an exponential growth in molecular biology and the introduction of practicable nucleic acid tests in the routine laboratory. The past two decades witnessed a continuing explosion of technological innovations in molecular diagnostics. In addition to classic PCR and reverse transcriptase PCR, numerous variations of PCR and alternative amplification techniques along with an ever-increasing variety of detection chemistries, closed tube (homogeneous) assays, and automated systems were developed. Discovery of real-time quantitative PCR and the development of oligonucleotide microarrays, the 'DNA chip', in the 1990s heralded the beginning of another revolution in molecular biology and diagnostics that is still in progress.
在“完成”人类基因组计划取得成功的背后，是长达30多年的核酸检测技术创新历程。
20世纪70年代初，在发现了特定的限制性内切酶和逆转录酶后不久，首批诊断性核酸检测方法便得以开发。20世纪70年代后期，Southern印迹法、Northern印迹法、斑点印迹法和DNA测序技术的引入极大地提升了诊断能力。然而，1985年聚合酶链反应（PCR）的发现引发了分子生物学的指数级增长，并使实用的核酸检测方法得以引入常规实验室。在过去的二十年里，分子诊断技术创新持续爆发。除了经典的PCR和逆转录PCR，还开发了多种PCR变体、替代扩增技术，以及种类不断增加的检测化学方法、闭管（均相）检测法和自动化系统。20世纪90年代实时定量PCR的发现和寡核苷酸微阵列（即“DNA芯片”）的开发，预示着分子生物学和诊断学领域另一场仍在进行中的革命的开端。
