双色双融合荧光原位杂交检测慢性粒细胞白血病的bcr/abl融合基因研究

目的：探讨双标双融合荧光原住杂交技术(dual-color and dual-fusion fluorescence in—situ hybridization，D—FISH)在慢性粒细胞白血病(chronic myeloid leukemia，CML)中检测bcr／abl融合基因的灵敏度及特异性。方法：应用细胞遗传学G显带(CCG)核型分析、双色荧光原住杂交(D—FISH)和染色体涂染技术，检测了29例CML患者骨髓中期分裂相和间期细胞。结果：CCG检出Ph( )24例，D—FISH检测均为bcr／abl( )；Ph(-)5例，其中4例核型为46，XY，经D—FISH检测2例bcr／abl( )，2例ber／abl(-)，另1例核型为46，XYt(20；22)，D—F1SH检测ber／abl( )，以9号，20号和22号全染色体探针涂染，确定该例核型为46，XYt(9；20；22)，D—FISH检测总阳性率为93．10％(27／29)，高于CCG检查时阳性率82．76％(24／29)(P=0．025)。结论：与CCG方法相比，D—FISH检测CML的ber／abl融合基因具有简便、快速、灵敏、特异性强等优点，可以作为CML临床诊断和微小残留病监测的一种重要检测方法。．

THE STUDY OF DETECTING THE BCR/ABL HYBRIDIZES GENE BY FLUORESCENCE IN SITU HYBRIDIZATION WITH DUAL-COLOR AND DUAL-FUSION TRANSLOCATION PROBE IN CHRONIC MYELOID LEUKEMIA

Objective:To detect the bcr/abl hybridized gene in chronic myeloid leukemia (CML) with dual-color and dual-fusion fluorescence in sim hybridization probes, and the sen sitivity and specificity of this type of probe are discussed. Methods:The karyotype was detected by conventional cytogenetic G-banding (CCG) and the bcr/abl hybridized gene was investigated by fluorescence in sim hybridization technique with dual color and dual-fusion probes(D-FISH) in interphase and/or metaphase cells of bone marrow from 29 CML cases. Results:Twenty-four positive Ph cases were detected by CCG, they were all positive cases with bcr/abl fusion gene by D-FISH. Of the five negative Ph cases, 4 cases possessed the karyotype of 46 ,XY, and bcr/abl(+) fusion gene were found in 2 cases. One bcr/abl(+) case with the karyotpye of 46, XY t(20;22) were investigated further with whole chromosome painting probes of chromosome 9, chromosome 20 and chromosome 22. We identified the accurate translocation type of this case should be XYt(9;20;22). The positive ratio detected by D-FISH was 93.10%, higher than that of CCG(82.76%). Conclusion:D-FISH can be used as an important method for CML diagnosis. Compared with CCG, it is more simple, rapid and sensitive.