多重荧光原位杂交技术体系的建立及其在检测白血病复杂核型异常中的应用  

Establishment and application of multiplex FISH in detection of the complex chromosome abnormalities in leukemia

作　　者：赵萌[1] 陈冰[1] 王璐[1] 徐岚[1] 曹琪[1] 苏欣莹[1] 陈赛娟[1] 

机构地区：[1]上海第二医科大学附属瑞金医院上海血液学研究所医学基因组学国家重点实验室,200025

出　　处：《中华医学遗传学杂志》2002年第5期375-378,共4页Chinese Journal of Medical Genetics

基　　金：国家 8 63高技术研究发展计划 (2 0 0 1 AA2 2 1 0 1 1 )~~

摘　　要：目的　建立多重荧光原位杂交技术 (multiplex fluorescence in situ hybridization,M- FISH)体系 ,探讨其在检测白血病复杂核型异常中的应用。方法　联合应用常规核型分析、染色体涂抹 (chromo-some painting,CP)、染色体荧光原位杂交 (fluorescence in situ hybridization,FISH)和 M- FISH方法分析了两例白血病复杂核型。结果　对其中 1例常规核型分析显示为 4 6 ,XY,der(9) t(9;12 )的急性淋巴细胞白血病 - L 2型病例 ,M- FISH检出其具有复杂的染色体易位 :4 6 ,XY,der(2 ) t(2 ;9) ,der(9) t(9;12 ;2 2 )。对另 1例常规核型难以分析的急性单核细胞白血病 - M5型病例 ,M- FISH检出其复杂核型是 4 6 ,XY,der(2 ) t(2 ;17) ,der(10 ) t(10 ;11;17) ,der(11) t(11;?)。进一步用染色体涂抹和双色 FISH证实了 M- FISH的结果 ,并发现 ML L基因 (mixed lineage leukemia gene)受累。结论　 M- FISH是筛选白血病复杂染色体异常的理想方法 ,对阐明所有白血病、乃至其它肿瘤性疾病和遗传性疾病的染色体易位和基因改变有广阔的应用前景。Objective To set up the technical system of multiplex fluorescence in situ hybridization (M FISH)and to explore its application in detection of the complex chromosome abnormalities in leukemia. Methods The complex chromosome abnormalities of two leukemia patients were analyzed by the combination use of classical cytogenetics, chromosome painting (CP), FISH and M FISH. Results In a case of acute lymphoblastic leukemia L2, the complex karyotype: 46,XY,der(2)t(2;9),der(9)t(9;12;22) was identified by M FISH, which was detected as 46,XY,der(9)t(9;12) by classical cytogenetics; In a case of acute monocytic leukemia M5, the complex chromosome abnormalities: 46,XY,der(2)t(2;17), der(10)t(10;11;17), der(11)t(11;?) was revealed by M FISH, which was confirmed by CP and FISH, and mixed lineage leukemia (MLL) gene was also found involved in this complex chromosome translocation. Conclusion M FISH was proved to be a powerful tool to examine the complicated karyotypes and hopefully to elucidate nearly all chromosomal aberrations in leukemia and other cancers.

关 键 词：多重荧光原位杂交 白血病 复杂染色体核型异常 染色体易位 基因突变 

分 类 号：R733.7[医药卫生—肿瘤]