用染色体涂染技术分析五例染色体结构异常  

Application of chromosome painting technique to analysis of structural aberration of human chromosomes

作　　者：杨焕杰[1] 宋岩[1] 刘权章[1] 李钰[1] 傅松滨[1] 张贵寅[1] 李璞[1] 

机构地区：[1]哈尔滨医科大学医学遗传教研室,150086

出　　处：《中华医学遗传学杂志》2001年第2期135-138,共4页Chinese Journal of Medical Genetics

摘　　要：目的　结合 G-显带核型分析诊断染色体易位 ,并对 G显带技术难以鉴定的微小易位进行分析。方法　采用生物素标记的显微切割制备的 X、Y、14q、10号染色体特异性探针 ,与患者外周血培养淋巴细胞中期染色体进行荧光原位杂交。结果　室温存放近 10年的标本、- 80℃冻存标本及新鲜标本均可看到清晰的杂交信号 ,染色体结构异常很清楚。结论　染色体涂染技术结合 G显带核型分析 ,可以准确识别G显带技术难以鉴定的染色体微小易位。Objective This study was aimed at using chromosome painting technique to detect translocation, especially microtranslocations, on chromosomes in comparison with G-banding analysis. Methods Chromosome painting technique was applied to analysis of metaphase chromosomes of patients for detecting translocations with biotin-labeled chromosomes X, Y, 14q, 10 specific probes. Results Fluorescence in situ hybridization FISH signals were shown clearly in slides even in specimen stored at room temperature for 10 years and at -80°C. Translocations were located precisely. Conclusion Microtranslocations, which are hard to analyze by G-banding, can be detected exactly using chromosome painting technique with G-band karyotype on metaphase chromosome.

关 键 词：荧光原位杂交 染色体涂染技术 染色体结构异常 诊断 

分 类 号：R394[医药卫生—医学遗传学]