荧光原位杂交技术检测BCR/ABL融合基因的研究

目的建立荧光原位杂交技术平台,应用FISH技术检测在CML检测BCR/ABL融合基因,探讨FISH技术在在CML中应用的价值。方法应用FISH对BCR/ABL探针进行前期的验证,建立正常阈值,再应用该探针检测CML中BCR/ABL融合基因,进行临床检测评估。结果主要假阳性信号模式的正常阈值为1G1R1F 11%、1G1R2F 2%。75例样本FISH检测出48例阳性,15例经细胞遗传学检测,12例检测结果与FISH结果一致,3例CG为阴性,FISH检测为阳性。结论荧光原位杂交技术应用于临床检测之前应进行探针的前期验证,制定一套规范实验流程,且FISH技术在CML诊断、分型、临床治疗方案的制定、预后的判断以及微小残留病变检测上均有重要的价值。

The study of fluorescence in situ hybridization to detect BCR / ABL fusion gene.

Objective： The study was aimed to establish Fluorescence in situ hybridization technology platform, and to investigate clinical application value of FISH in CML. Methods ： Application of FISH for BCR / ABL probe pre - validation is established normal cut off. and then to clinical test and evaluation. Results： The main mode of false - positive signal for the normal cut off 1G1R1F 11%, 1G1R2F 2%. 48 of 75 samples were confirmed positive by FISH. 12 of 15 samples tested by CG are consistent with by FISH, Other 3 eases were negative by CG, but positive by FISH. Conclusion ： Preelinieal validation of FISH probe should be done, before FISH used in clinical test, and then have a set of standardized laboratory procedures. FISH are important value in CML diagnosis, classification, elinieal program development, prognosis, as well as on the detection of minimal residual disease.