【摘要】 目的在单细胞水平用多重置换扩增(MDA)方法进行性别鉴定,建立一种高效、快速、准确的性别鉴定技术。方法应用多重置换PCR同时扩增单个淋巴细胞的Y染色体特异重复序列(DYZ1)及X染色体特异重复序列(DXZ1),同时用核型分析检验MDA结果。结果 40个单核细胞均扩增成功,扩增成功率100%。其中22例为成功地扩增出一条DXZ1(316bp)电泳带,18例成功地扩增出DXZ1电泳带(316bp)和DYZ1(154bp)电泳带,与核型分析结果一致,正确率为100%。结论单细胞通过多重置换扩增进行性别鉴定是一种简单可靠的方法,可用于胚胎种植前诊断及无创性产前诊断。更多还原

【Abstract】 Objective Using multiple displacement amplification(MDA) method in monoplast level to establish an efficient, rapid and accurate sex identification technology. Methods Using multiple displacement PCR amplified monoplast Y-chromosome-specific repeat sequence(DYZ1) and X-chromosome-specific repeats(DXZ1) at the same time, while verified MDA results by karyotype analysis. Results 40 mononuclear cells were successfully amplified, and the success rate was 100%. 22 cases were successfully amplified a DXZ1(316 bp) electrophoresis, while 18 cases were successfully amplified DXZ1 electrophoresis(316 bp) and DYZ1(154 bp)electrophoresis, which was consistent with Karyotype analysis results. Conclusion Having gender identification of monoplast by multiple displacement amplification, is a simple and reliable method, which can be used for pre-implantation diagnosis and non-invasive prenatal diagnosis.更多还原