[Detection of BCR/ABL Fusion Gene and ASS1 Gene Deletion by Using Tricolor Dual-fusion Probe].

To analyze the significance of various abnormal signal patterns appreared in CML and B-ALL patients by using BCR/ABL/ASS1 tricolor dual-fusion probe, and to explore its application value in detecting BCR/ABL fusion gene and ASS1 gene deletion. 50 newly diagnosed CML patients and 50 newly diagnosed B-ALL patients were detected by fluorescence in situ hybridization (FISH) with BCR/ABL/ASS1 tricolor dual-fusion probe. Meanwhile, karyotype analysis was performed on all the patients using the 24 hours short-term culture and R-banding. Among the 50 CML patients, Ph Tricolor dual-fusion FISH probe for detecting BCR/ABL fusion gene and ASS1 gene deletion is simple, rapid, sensitive and stable. It can detect various forms of molecular fusion and avoid the false positive results due to coincidental overlap of signals generated by D-FISH probe and ES-FISH probe. In addition, this detection method not only can directly observe the presence or absence of ASS1 gene deletion, but also improve the reliability of the positive results of newly diagnosed BCR/ABL fusion gene and accuracy of monitoring results of minimal residual disease for the subsequent visit. 应用三色双融合探针检测BCR-ABL融合基因及ASS1基因缺失. 分析BCR/ABL/ASS1三色双融合探针在CML和B-ALL所出现的各种异常信号模式的意义，并探讨其在检测BCR/ABL融合基因及ASS1基因缺失中的应用价值. 分别对50例初诊CML患者和50例初诊B-ALL患者采用BCR/ABL/ASS1三色双融合探针进行荧光原位杂交（FISH）检测，同时对所有病例应用24 h短期培养法R显带后进行染色体核型分析. 50例CML患者中，49例Ph 应用三色双融合FISH探针检测BCR/ABL融合基因及ASS1基因缺失，具有简单、快速、灵敏、稳定的特点，能够检测多种形式的分子融合，可很好地避免D-FISH探针及ES-FISH探针因信号随机重叠导致的假阳性结果。该检测方法不但可以直接观察有无ASS1基因的缺失，而且还能提高初诊BCR/ABL融合基因阳性结果的可靠性及复诊监测微小残留病结果的准确性.