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植入前基因诊断

Preimplantation genetic diagnosis.

作者信息

Ouhibi N, Olson S, Patton P, Wolf D

机构信息

Departments of Obstetrics & Gynecology, and Molecular & Medical Genetics, Oregon Health and Science University, 1750 SW Harbor Way, Suite 100, Portland, OR 97201, USA.

出版信息

Curr Womens Health Rep. 2001 Oct;1(2):138-42.

Abstract

Preimplantation genetic diagnosis (PGD) has now been used in human fertility centers for a decade. To this end, diagnostic analysis is conducted on polar bodies or single blastomeres from biopsied embryos before the embryos are transferred, allowing the selection of normal embryos before a pregnancy has been established. Advances in technology available for PGD are described, including fluorescent in situ hybridization (FISH), interphase chromosome conversion, comparative genomic hybridization (CGH), fluorescent polymerase chain reaction (PCR), multiplex PCR, and whole genome amplification. These techniques support the diagnosis of a number of diseases at the single-cell level.

摘要

植入前基因诊断(PGD)现已在人类生育中心应用了十年。为此,在胚胎移植前,对活检胚胎的极体或单个卵裂球进行诊断分析,从而在妊娠确立前选择正常胚胎。文中描述了可用于PGD的技术进展,包括荧光原位杂交(FISH)、间期染色体转换、比较基因组杂交(CGH)、荧光聚合酶链反应(PCR)、多重PCR和全基因组扩增。这些技术支持在单细胞水平上对多种疾病进行诊断。

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