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本文应用近年发展起来的荧光原位杂交 (fluorescenceinsituhybridization ,FISH)技术 ,对非整倍体染色体 45 ,XX、47,XXX、47,XXY、47,XYY等性染色体异常以生物素标记的X着丝粒探针和Y长臂探针进行检测 ,同时与正常 46 ,XX和 46 ,XY核型作对照。并对两例绒毛细胞作了产前性别诊断 ,都取得了良好的诊断效果。与常规的细胞遗传学方法比较FISH技术有快速、准确、特异等优点 ,诊断非整倍体性染色体异常和绒毛细胞的产前性别诊断技术性能可靠 ,为临床多种材料的FISH技术检测打下了基础。
In this paper, fluorescence in situ hybridization (FISH) technique developed in recent years was used to detect the abnormalities of chromosomes 45, XX, 47, XXX, 47, XXY, 47, The Y-probe and the Y-probe were tested and compared with normal 46, XX and 46, XY karyotypes. And two cases of villus cells made prenatal diagnosis of gender, have achieved good diagnostic results. Compared with conventional cytogenetic methods FISH technology is fast, accurate and specific, diagnosis of aneuploidy chromosomal abnormalities and villi cells prenatal diagnosis of gender and reliability of the performance of a variety of clinical materials for FISH laid the foundation basis.