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

机译:尝试体外受精(IVF)后,通过荧光原位杂交(FISH)分析异常胚胎的人类卵裂球中的第18号染色体。

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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.
机译:我们对人类异常分裂的胚胎用18号染色体特异性探针进行了荧光原位杂交(FISH),通过两个精子受精并表现出三个原核(3 PN)或正常受精并表现出两个原核(2 PN),随后出现严重断裂和/或阻止。这项研究的目的是评估这些胚胎中18号染色体异常的发生率,以便评估这种材料上的FISH效率,并获得比传统细胞遗传学分析获得的数据更为精确和完整的数据。对于3个PN分裂的胚胎,FISH证实了对二倍体的频繁调控(25%)和较高的镶嵌率(53%)。对于2个PN受阻或受损的胚胎,FISH允许对染色体进行评估,而传统的细胞遗传学技术则无法进行染色体评估:我们还发现这些胚胎的镶嵌率很高(45%)。如果该频率与正常发育的胚胎的频率相同,则将成为染色体或基因植入前诊断可靠性的主要障碍。

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