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胚胎着床前通过比较基因组杂交进行基因筛查。

The genetic screening of preimplantation embryos by comparative genomic hybridisation.

机构信息

Genea, Sydney, NSW 2000, Australia.

出版信息

Reprod Biol. 2011 Dec;11 Suppl 3:51-60.

Abstract

Comparative genomic hybridization (CGH) is an indirect DNA-based test which allows for the accurate analysis of aneuploidy involving any of the 24 types of chromosomes present (22 autosomes and the X and Y sex chromosomes). Traditionally, embryos have been screened using fluorescence in situ hybridization (FISH)--a technique that was limited in the number of chromosomes able to be identified in any one sample. Early CGH reports on aneuploidy in preimplantation embryos showed that any of the 24 chromosomes could be involved and so FISH methods were going to be ineffective in screening out abnormal embryos. Our results from routine clinical application of array CGH in preimplantation genetic diagnosis (PGD) patients confirm previous reports on patterns of chromosomal contribution to aneuploidy. The pregnancy outcomes following embryo transfer also indicate that despite the requirement to freeze embryos, rates are encouraging, and successful ongoing pregnancies can be achieved.

摘要

比较基因组杂交 (CGH) 是一种间接的基于 DNA 的测试,可以准确分析涉及任何 24 种染色体(22 条常染色体和 X、Y 性染色体)的非整倍体。传统上,胚胎一直通过荧光原位杂交 (FISH) 进行筛选,该技术在一个样本中能够鉴定的染色体数量有限。早期关于胚胎植入前非整倍体的 CGH 报告表明,任何 24 条染色体都可能受到影响,因此 FISH 方法在筛选异常胚胎方面将无效。我们在胚胎植入前遗传学诊断 (PGD) 患者中常规应用阵列 CGH 的结果证实了先前关于染色体对非整倍体贡献模式的报告。胚胎移植后的妊娠结局也表明,尽管需要冷冻胚胎,但成功率令人鼓舞,可以实现成功的持续妊娠。

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