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首页> 外文期刊>Human Genetics >Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization.
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Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization.

机译：通过使用比较基因组杂交对人类胚胎中的卵裂球进行染色体分析。

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Karyotypic studies of aborted fetuses have been used to draw the inference that the proportion of conceptuses with chromosome abnormalities is very high. Fluorescent in situ hybridization (FISH) studies of blastomeres from early cleavage embryos have provided some support for this inference but they are limited to the study of a few chromosomes. We describe the novel application of comparative genomic hybridization (CGH) to the study of numerical and structural abnormalities of single blastomeres from disaggregated 3-day-old human embryos. CGH results were obtained for 63 blastomeres from 12 embryos. Identification of all chromosomes with the exception of chromosomes 17, 19, 20 and 22 was possible. The embryos divided into four groups: (1) embryos with a normal CGH karyotype seen in all blastomeres; (2) embryos with consistent aneuploidy suggesting meiotic non-disjunction had occurred; (3) embryos that were mosaic generally with one or more cells showing aneuploidy for one or two chromosomes but some with cells showing extensive aneuploidy; and (4) one embryo with extensive aneuploidy in all blastomeres. The extensive aneuploidy in group 4 is interpreted as corresponding to the random aneuploidy seen in "chaotic" embryos reported by using interphase FISH. Partial chromosome loss and gain following chromosome breakage was observed in one embryo. Our analysis provides basic biological information on the occurrence of constitutional and post-zygotic chromosome abnormalities in early human embryos. Used in conjunction with embryo biopsy, diagnostic CGH should allow the exclusion of a proportion of embryos that appear normal but that have a poor probability of survival and, therefore, may improve the implantation rate after in vitro fertilization.
机译：已对流产胎儿进行染色体核型研究，得出的结论是，具有染色体异常的概念性胎儿比例很高。早期卵裂卵裂球的荧光原位杂交（FISH）研究为这一推断提供了一定的支持，但仅限于少数染色体的研究。我们描述了比较基因组杂交（CGH）的新应用，用于研究从3天大的人类胚胎中分离的单个卵裂球的数量和结构异常。从12个胚胎中获得63个卵裂球的CGH结果。可以鉴定除17、19、20和22号染色体以外的所有染色体。胚胎分为四组：（1）在所有卵裂球中均具有正常CGH核型的胚胎; （2）胚胎具有一致的非整倍性，表明发生了减数分裂。 （3）镶嵌的胚胎通常有一个或多个细胞表现出一个或两个染色体的非整倍性，而有些则具有细胞表现出广泛的非整倍性; （4）在所有卵裂球中有一个具有广泛非整倍性的胚胎。第4组中广泛的非整倍性被解释为与使用相间FISH报道的“混沌”胚胎中观察到的随机非整倍性相对应。在一个胚胎中观察到染色体断裂后部分染色体丢失和增加。我们的分析提供了有关早期人类胚胎中体质和合子后染色体异常发生的基本生物学信息。诊断性CGH与胚胎活检结合使用时，应排除一部分看似正常但存活概率较弱的胚胎，因此可以提高体外受精后的植入率。

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