Lissens W, Sermon K
Centre for Medical Genetics, University Hospital and Medical School of the Dutch-speaking Brussels Free University, Belgium.
Hum Reprod. 1997 Aug;12(8):1756-61. doi: 10.1093/humrep/12.8.1756.
Preimplantation genetic diagnosis (PGD) is a very early form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic diseases before implantation. To this end, two major technologies are in use: the polymerase chain reaction (PCR) for monogenic diseases and fluorescent in-situ hybridization (FISH) for chromosomal aberrations. In this review, a number of problems arising from the use of these technologies, as well as their possible solutions and new developments, are discussed. Concerning PCR, the phenomenon of allelic drop-out, as well as methods to reduce this problem, such as fluorescent PCR, are described. The advantages and disadvantages of sperm separation by flow cytometry as an adjunct to sex determination for the avoidance of X-linked disease are discussed. The application of FISH for aneuploidy detection is commented upon and the advances in cell recycling, in which PCR and FISH are combined, are analysed. Finally, diseases for which PGD is currently possible are summarized.
植入前基因诊断（PGD）是一种非常早期的产前诊断形式，旨在在胚胎植入前消除携带严重遗传疾病的胚胎。为此，目前使用两种主要技术：用于单基因疾病的聚合酶链反应（PCR）和用于染色体畸变的荧光原位杂交（FISH）。在这篇综述中，讨论了使用这些技术产生的一些问题，以及它们可能的解决方案和新进展。关于PCR，描述了等位基因脱扣现象以及减少该问题的方法，如荧光PCR。讨论了通过流式细胞术分离精子作为辅助性别鉴定以避免X连锁疾病的优缺点。对FISH在非整倍体检测中的应用进行了评论，并分析了将PCR和FISH相结合的细胞回收技术的进展。最后，总结了目前可进行PGD的疾病。
