Hahn S, Zhong X Y, Troeger C, Burgemeister R, Gloning K, Holzgreve W
Department of Obstetrics and Gynaecology, University of Basel, Switzerland.
Cell Mol Life Sci. 2000 Jan 20;57(1):96-105. doi: 10.1007/s000180050501.
The advent of the polymerase chain reaction (PCR) has revolutionised the way in which molecular biologists view their task at hand, for it is now possible to amplify and examine minute quantities of rare genetic material: the limit of this exploration being the single cell. It is especially in the field of prenatal diagnostics that this ability has been readily seized upon, as it has opened up the prospect of preimplantation genetic analysis and the use of fetal cells enriched from the blood of pregnant women for the assessment of single-gene Mendelian disorders. However, apart from diagnostic applications, single-cell PCR has proven to be of enormous use to basic scientists, addressing diverse immunological, neurological and developmental questions, where both the genome but also messenger RNA expression patterns were examined. Furthermore, recent advances, such as optimised whole genome amplification (WGA) procedures, single-cell complementary DNA arrays and perhaps even single-cell comparative genomic hybridisation will ensure that the genetic analysis of single cells will become common practice, thereby opening up new possibilities for diagnosis and research.
聚合酶链反应（PCR）的出现彻底改变了分子生物学家看待手头任务的方式，因为现在有可能扩增和检测微量的稀有遗传物质：这种探索的极限是单细胞。尤其是在产前诊断领域，这种能力已被迅速利用，因为它开启了植入前基因分析以及利用从孕妇血液中富集的胎儿细胞来评估单基因孟德尔疾病的前景。然而，除了诊断应用外，单细胞PCR已被证明对基础科学家非常有用，可解决各种免疫学、神经学和发育问题，在这些问题中既要检测基因组也要检测信使RNA的表达模式。此外，最近的进展，如优化的全基因组扩增（WGA）程序、单细胞互补DNA阵列甚至可能是单细胞比较基因组杂交，将确保单细胞的遗传分析成为常规做法，从而为诊断和研究开辟新的可能性。
