背景: 染色体相互易位在人群中比较常见, 下一代常常产生相同或不同的易位, 易导致容易流产, 而植入前诊断方法之一的CGH难以检测到相互易位, 因此原位杂交(FISH)依然是解决诊断相互易位的有力手段。目的: 通过设计个体化的FISH探针, 制备探针, 并在卵裂球单细胞水平进一步验证探针的准确性, 为筛选正常核型的囊胚进行植入奠定技术基础, 为个体化的FISH探针植入前诊断提供应用研究基础。方法: 通过设计1q 和6p平衡易位探针, 进行探针标记, 再采用患者和正常人核型验证探针质量, 通过荧光原位杂交技术进一步检测正常人受精后的卵裂球中1q 和6p平衡易位对易位染色体状态。结果: 3个卵接球裂均呈现单个完整细胞核, 荧光原位杂交中各细胞核均有清晰明亮的杂交信号。信号数分别为2。均为正常胚胎, 可以考虑进一步对该易位患者进行卵裂球进行诊断, 上述研究对个体化的易位探针的应用研究提供了研究基础。

Background: Chromosome translocation are common, which often cause the same or different translocation, easily leading to abortion. The CGH of human preimplantation diagnosis is difficult to detect the reciprocal translocation, therefore in situ hybridization (FISH) is still a powerful tool for the diagnosis of translocation. Objective: By designing of individualized FISH probe, preparation and labeling of probes, and the further screening of normal karyotype and single-cell level validation of the labeled probe with blastocyst, we provide one possibility of individualized FISH probe for application diagnosis. Methods: Designing 1q and 6p balanced translocation FISH probe, then we use the patients and the normal karyotype as control to test probe by fluorescence in situ hybridization; further confirm the probe with normal blastocyst as single cell. Results: Three blastocyst presents single complete nuclei after fluorescence in situ hybridization, the nuclei were clear and bright signals with two green and two red signal number respectively. The study provide the basis that individualized translocation FISH probe could be applied on preimplantation genetic diagnosis (PGD) in the future.