植入前基因诊断：现状与未来。
Preimplantation genetic diagnosis: present and future.
作者信息
Fragouli Elpida
机构信息
Department of Obstetrics and Gynecology, Yale University Medical School, 300 George Street, Suite 770, New Haven, CT 06511, USA.
出版信息
J Assist Reprod Genet. 2007 Jun;24(6):201-7. doi: 10.1007/s10815-007-9112-2.
PURPOSE
Preimplantation genetic diagnosis (PGD) was developed more than a decade ago and aims to identify embryos free of genetic disease attributed either to gene mutations or chromosome errors. The purpose of this article is to provide an update on the current status and future prospects of PGD.
METHODS
Review of studies employing different strategies for the detection of single gene defects, and chromosome abnormalities, both structural and numerical in the context of PGD.
RESULTS
Amplification of several DNA fragments is feasible via multiplex PCR for the PGD of single gene disorders, whilst current FISH protocols employ up to 10 probes to identify embryos with a normal chromosome complement. New methods are being developed which will enable the assessment of the entire chromosome complement of embryonic blastomeres.
CONCLUSIONS
PGD has come a long way since its first application, and has become very accurate and reliable. Technical advances in the field of preimplantation genetics mean that PGD holds great promise for the future.
目的
胚胎植入前遗传学诊断（PGD）于十多年前问世，旨在识别无基因突变或染色体错误所致遗传疾病的胚胎。本文旨在介绍PGD的现状及未来前景。
方法
回顾在PGD背景下采用不同策略检测单基因缺陷以及结构和数量染色体异常的研究。
结果
通过多重PCR扩增多个DNA片段对单基因疾病进行PGD是可行的，而目前的荧光原位杂交（FISH）方案使用多达10种探针来识别染色体组正常的胚胎。正在开发新的方法，以评估胚胎卵裂球的整个染色体组。
结论
自首次应用以来，PGD已经取得了长足的发展，变得非常准确和可靠。植入前遗传学领域的技术进步意味着PGD在未来具有巨大的潜力。
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