应用荧光原位杂交技术研究妊娠丢失中的镶嵌四倍体和母源细胞污染。
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses.
机构信息
Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.
出版信息
J Assist Reprod Genet. 2010 Nov;27(11):657-62. doi: 10.1007/s10815-010-9460-1. Epub 2010 Jul 31.
PURPOSE
karyotype is a well established technique in the study of spontaneous miscarriages but is associated with selective overgrowth of maternal cells and other culture artefact (spp) such as tetraploidy, which could mask the true karyotype of the conceptus.
METHODS
328 cases of pregnancy losses were studied by karyotype and Multiplex Ligation Dependent Probe Amplification technique. Touch FISH performed in non-cultured cells was used to evaluate the ploidy complement and sex discrepancies using centromeric probes for chromosomes X, Y and 18.
RESULTS
touch FISH confirmed 13 cases of maternal contamination, identified a triploidy and a monosomy X. True tetraploidy was confirmed in 7/14 cases studied.
CONCLUSION
touch FISH protocol is extremely accurate in the distinction of genuine mosaicism from tissue culture artifacts namely in cases with suspicion of tetraploidy and can be used to confirm maternal cell contamination in cases with sex discrepancy between karyotype and MLPA.
目的
染色体核型分析是研究自然流产的一项成熟技术，但它与母体细胞的选择性过度生长和其他培养假象（如四倍体）有关，这可能掩盖了胚胎的真实核型。
方法
通过核型分析和多重连接依赖性探针扩增技术研究了 328 例妊娠丢失病例。使用非培养细胞中的触摸荧光原位杂交（touch FISH）技术，使用针对染色体 X、Y 和 18 的着丝粒探针，评估了ploidy 互补和性别差异。
结果
触摸 FISH 证实了 13 例母体污染，鉴定出一例三倍体和一例 X 单体。在研究的 14 例中，有 7 例真正的四倍体得到了证实。
结论
触摸 FISH 方案在区分真正的嵌合体与组织培养假象方面非常准确，特别是在怀疑四倍体的情况下，并且可以用于在核型和 MLPA 之间存在性别差异的情况下确认母体细胞污染。
Zotero 插件