DIAGNOSIS OF MAJOR CHROMOSOME ANEUPLOIDIES IN HUMAN PREIMPLANTATION EMBRYOS
DIAGNOSIS OF MAJOR CHROMOSOME ANEUPLOIDIES IN HUMAN PREIMPLANTATION EMBRYOS
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DOI：
10.1093/oxfordjournals.humrep.a138001
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发表时间：
1993-12-01
影响因子：
6.1
通讯作者：
COHEN, J
中科院分区：
文献类型：
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作者：
MUNNE, S;LEE, A;COHEN, J
使用荧光染料和地高辛标记的 DNA 探针的短荧光原位杂交 (FISH) 程序被开发用于人类植入前胚胎，以分析与人类非整倍性最相关的 5 条染色体（X、Y、18、13 和 21）。对 30 个人类胚胎的 157 个卵裂球中的染色体进行荧光染色并同时检测。 93% 的卵裂球成功进行了 FISH 分析。在 70% 发育异常的单精子胚胎中发现了这些染色体的畸变。大多数从老年患者获得的正常发育的单精子胚胎也存在染色体异常。通过分析这些胚胎的全部或大部分细胞，真正的嵌合现象与技术失败区分开来。发育异常的胚胎中常见的是马赛克胚胎、倍性高达8n的多倍体胚胎、单倍体胚胎、13/21和X的单体胚胎以及13/21和18的三体胚胎。相反，非整倍性是正常发育的单精胚胎中发现的主要染色体异常。
A short fluorescence in-situ hybridization (FISH) procedure using fluorochrome and digoxigenin labelled DNA probes was developed for application in human preimplantation embryos in order to analyse the five chromosomes most involved in human aneuploidy (X, Y, 18, 13 and 21). The chromosomes were fluorescent-stained and detected simultaneously in 157 blastomeres from 30 human embryos. Successful FISH analysis was achieved in 93% of the blastomeres. Aberrations for these chromosomes were found in 70% of abnormally developing monospermic embryos. The majority of normally developing monospermic embryos obtained from older patients were also chromosomally abnormal. By analysing all or most of the cells from these embryos, true mosaicism was distinguished from technique failure. Mosaic embryos, polyploid embryos with ploidies as high as 8n, haploid embryos, embryos monosomic for 13/21 and for X, and embryos trisomic for 13/21 and 18, were common in abnormally developing embryos. In contrast, aneuploidy was the main chromosome abnormality found in normally developing monospermic embryos.