从外周血间期细胞中检测染色体非整倍体  

DETECTION OF CHROMOSOME ANEUPLOIDS IN INTERPHASE CELLS FROM PERIPHERAL BLOOD

作　　者：苏光[1,2] 乔惠珍[1,2] 苏荣[1,2] 张淑琴[1,2] 

机构地区：[1]内蒙古医学院第一附属医院妇产科 [2]呼和浩特市第一医院

出　　处：《内蒙古医学院学报》1997年第4期4-7,共4页Acta Academiae Medicinae Neimongol

摘　　要：将荧光原位杂交（Ｆｌｕｏｒｅｓｃｅｎｃｅｉｎｓｉｔｕｈｙｂｒｉｄｉｚａｔｉｏｎ，ＦＩＳＨ）技术应用于未培养的外周血间期检测染色体非整倍体，以省去复杂的细胞培养过程。选用Ｄ２１Ｚ１／Ｄ１３Ｚ１ＤｘＺ１探针与８例正常人及３例唐氏综合征和３例特纳综合征外周血间期白细胞进行荧光原位杂交来检测染色体非整倍体。结果表明：通过统计间期核中的杂交信号，能准确检出唐氏综合征及特纳综合征，与常规细胞学结果相符，该法省去了复杂的细胞培养过程和周期，不仅使常规的细胞学得以简化，而且为产前诊断染色体非整倍体及肿瘤病因学的研究提供了捷径。objective: To detect the specific aneuploids in the uncultured interphase nuclei from human peripheral blood cells.Design: We have selected two commercially available DNA probe (DxZ1、D21Z1/D13Z1) for direct analysis of uncultured peripheral blood cells.Fourteen samples were analysed by FISH and standard cytogenetics.Result: The frequency of neclei with one hybridization signal from samples of female disomic for chromosome X was 64%, while Turners samples and 878% of nuclei with one signal.The frequency of neclei with five signals from samples disomic for chromosome 21 and 13 was 185%, while trisomic samples and 466% of nuclei with five signals.Conclusion: We can accurately and rapidly detect aneuploids involving these chromosomes.It conformed with conventional cytogenetics.Normal (disomic) and aneuploids samples can be distinguished clearly and rapidly without cultured in conventional assay.

关 键 词：血液 间期核 荧光原位杂交 细胞 诊断学 

分 类 号：R596.104[医药卫生—内科学]