多重荧光原位杂交检测骨髓增生异常综合征患者复杂核型异常  

Multiplex fluorescence in situ hybridization in detecting complex chromosomal aberrations in myelodysplastic syndromes

作　　者：肖冰[1] 李建勇[1] 潘金兰[2] 马力[3] 仇海荣[1] 吴亚芳[2] 薛永权[2] 

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,210029 [2]苏州大学附属第一医院,江苏省血液研究所 [3]新疆医科大学

出　　处：《中华血液学杂志》2005年第9期513-516,共4页Chinese Journal of Hematology

基　　金：江苏省135工程医学重点人才资助项目(RC2002044)

摘　　要：目的探讨多重荧光原位杂交(M-FISH)技术在骨髓增生异常综合征(MDS)患者复杂核型异常检测中的应用价值。方法对10例常规R显带具有复杂染色体异常(CCA)的MDS患者应用M-FISH确定复杂染色体的重排及标记染色体的组成,识别并确定微小易位。结果M-FISH共检出37种结构重排,包括插入易位、缺失、易位及衍生染色体。其中34种为不平衡重排;3种为平衡重排,包括:t(6;22)(q21;q12)、t(9;19)(q13;p13)和t(3;5)(?;?)。有7种重排文献未见报道。涉及17号染色体的异常及-5/5q-最为常见(10例患者中两种异常各占7例)。结论对伴有CCA的MDS患者M-FISH技术可以明确常规细胞遗传学(CC)分析中复杂染色体异常,并发现和纠正CC分析中漏检及误检的异常。为MDS患者染色体异常的分析提供了一种较理想的方法。Objective To explure the value of multiplex fluorescence in situ hybridization （ M-FISH ） technique in the detection of the complex chromosomal aberrations （CCAs） in myelodysplastie syndrumes （MDS）. Methods M-FISH was used in ten MDS patients with R-handlng CCAs to refine the complex chromosomal rearrangements, the constitute of marker chromosomes, and to identify the cryptic transloeations. Results Thirty-seven kinds of structural rearrangements were detected by M-FISH including insertion, deletion, transloeation and derivative chromosomes, among which 34 kinds were unbalanced rearrangements, and 3 were balanced rearrangements includingt（6;22）（q21;q12）, t（9;19）（q13;p13） and t（3;5）（？;？）. Seven abnolmalities in the present paper were first reported in the literature. In addition, ehron）oson）e 17 aberrations （7/10） and -5/5q- （7/10） were the two most frequent abnormalities. Conclusions M-FISH could refine CCAs in MDS patients, find or correct the missed or misidentified abnormalities analysed by conventional eytogeneties.

关 键 词：原位杂交 荧光 多重 骨髓增生异常综合征 核型分析 多重荧光原位杂交 核型异常 原位杂交检测 患者 复杂 染色体异常 标记染色体 

分 类 号：R55[医药卫生—血液循环系统疾病]