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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.

DOI:10.1002/pd.1970150908
PMID:8559754
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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1
Chromosome 18 analysis by fluorescence in situ hybridization (FISH) in human blastomeres of abnormal embryos after in vitro fertilization (IVF) attempt.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。
Prenat Diagn. 1995 Sep;15(9):835-41. doi: 10.1002/pd.1970150908.
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Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer.移植前对人类植入前胚胎中X、Y、18和16号染色体数目异常的评估。
Am J Obstet Gynecol. 1995 Apr;172(4 Pt 1):1191-9; discussion 1199-201. doi: 10.1016/0002-9378(95)91479-x.
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Undocumented embryos: do not trash them, FISH them.未记录的胚胎:不要丢弃它们,用荧光原位杂交技术检测它们。
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Chromosome mosaicism in human embryos.人类胚胎中的染色体嵌合现象。
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Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF.植入前基因筛查显示,接受体外受精的年轻女性胚胎中,非整倍体和嵌合体的发生率很高。
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Simultaneous detection of chromosomes X, Y, 13, 18, and 21 by fluorescence in situ hybridization in blastomeres obtained from preimplantation embryos.通过荧光原位杂交技术对从植入前胚胎获得的卵裂球同时检测X、Y、13、18和21号染色体。
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Diagnosis of major chromosome aneuploidies in human preimplantation embryos.人类植入前胚胎中主要染色体非整倍体的诊断
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Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study.人类植入前停滞胚胎中的染色体异常:一项多探针荧光原位杂交研究。
Am J Hum Genet. 1994 Jul;55(1):150-9.

引用本文的文献

1
Chromosome 21 detection in human oocyte fluorescence in situ hybridization: possible effect of maternal age.人卵母细胞荧光原位杂交中21号染色体检测:母亲年龄的可能影响
J Assist Reprod Genet. 1998 Mar;15(3):105-10. doi: 10.1023/a:1023056502731.