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体外受精(IVF)尝试后,对异常胚胎的人类卵裂球进行荧光原位杂交(FISH)分析18号染色体。

Chromosome 18 analysis by fluorescence in situ hybridization (FISH) in human blastomeres of abnormal embryos after in vitro fertilization (IVF) attempt.

作者信息

Bergere M, Selva J, Baud M, Volante M, Martin B, Hugues J N, Olivennes F, Frydman R, Auroux M

机构信息

IVF Laboratory, Hôpital Antoine Béclère, Clamart, France.

出版信息

Prenat Diagn. 1995 Sep;15(9):835-41. doi: 10.1002/pd.1970150908.

Abstract

We performed fluorescence in situ hybridization (FISH) with a chromosome 18-specific probe on human abnormal cleaved embryos, fertilized either by two spermatozoa and exhibiting three pronuclei (3 PN) or normally fertilized and exhibiting two pronuclei (2 PN) with subsequent severe fragmentation and/or blocking. The aim of the study was to evaluate the incidence of chromosome 18 anomalies among these embryos in order to evaluate the FISH efficiency on such material and to obtain more precise and complete data than those obtained with classical cytogenetic analysis. For the 3 PN cleaved embryos, FISH confirmed the frequent regulation towards diploidy (25 per cent) and the high frequency of mosaics (53 per cent). For the 2 PN blocked or damaged embryos, FISH permitted chromosome evaluation, which was otherwise impossible with classical cytogenetic techniques: we also found a high mosaic frequency (45 per cent) with these embryos. If this frequency were the same for normally developing embryos, it would be a major obstacle to the reliability of either chromosomal or genetic preimplantation diagnosis.

摘要

我们使用18号染色体特异性探针,对人类异常分裂胚胎进行荧光原位杂交(FISH)检测。这些胚胎要么由两个精子受精,表现为三个原核(3PN),要么正常受精,表现为两个原核(2PN),随后出现严重碎片化和/或发育阻滞。本研究的目的是评估这些胚胎中18号染色体异常的发生率,以评估FISH对此类材料的检测效率,并获得比传统细胞遗传学分析更精确、更完整的数据。对于3PN分裂胚胎,FISH证实了向二倍体的频繁调控(25%)和高频率的嵌合体(53%)。对于2PN阻滞或受损胚胎,FISH允许进行染色体评估,而这用传统细胞遗传学技术是不可能实现的:我们在这些胚胎中也发现了高频率的嵌合体(45%)。如果正常发育胚胎的这一频率相同,那么这将成为染色体或基因植入前诊断可靠性的一个主要障碍。

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