双色双融合荧光原位杂交探针检测慢性髓系白血病Bcr／Ab1基因重排的研究

本研究探讨双色双融合荧光原位杂交技术（DC-DF-FISH）在慢性髓系白血病（CML）中的应用价值，应用常规R-显带技术、DC-DF-FISH、RT—PCR技术检测41例CML患者的染色体核型及bcr／abl融合基因。结果表明，对于初诊CML的18例患者，R-显带显示Ph染色体阳性检出率为94．4％（17／18），DC—DF—FISH阳性检出率也为94．4％（17／18），对于治疗后CML的18例患者，R-显带显示14例有可分析分裂相，其中有ll例存在Ph染色体，阳性检出率为78．6％（11／14）；而用DC—DF—FISH检测治疗后患者的阳性率为94．4％（17／18）；移植后的5例患者R-显带均未检出Ph染色体，而FISH检测出1例bcr／abl基因阳性，RT-PCR证实了FISH的检测结论，但在移植患者中，RT-PCR无阳性发现。结论：双色双融合荧光原位杂交技术具有高度的准确性、可靠性，是检测CML患者bcr／abl基因重排的可靠方法，适用于CML的诊断、疗效判定及微小残留病灶的检测。

Detection of Bcr/Abl Gene Rearrangenment in Chronic Myeloge- nous Leukemia Patients by Dual-color Dual-fusion Fluorescence in situ Hybridization

This study was aimed to explore the value of dual-color dual-fusion fluorescence in situ hybridization （DC-DF-FISH） for the detection of bcr/abl fusion gene in chronic myeloid leukemia （CML）. The karyotypes of chromosomes and bcr/abl fusion gene in 41 cases of CML inclnding 18 cases of de-novo CML, 18 treated CML cases and 5 cases of CML receivced PBSCT were detected by conventional R-banding technique, DC-DF-FISH and RT-PCR. The results indicated that the Ph chromosome was found in 17 out of 18 cases of de novo CML by R-banding technique, with positive rate of 94.4% ; DC-DF-FISH detection showed same result （94.4%）. The R-banding technique was adopted to detect 18 treated patients and showed that 14 cases had metaphase for analysis, the Ph chromosome existed in 11 out of 14 cases with positive rate of 78.6% （11/14）, however, DC-DF-FISH detection also showed positive rate of 94.4% （17/18） for these treated patients. The Ph chromosome in 5 cases after PBSCT did not found by R-banding technique, meanwhile FISH detection indicated that 1 case had bcr/abl gene, RT-PCR assay confirmed the result of FISH detection. It is concluded that the DC-DF-FISH technique is an accurate and reliable method for detecting bcr/abl gene which can be used in diagnosis of CML, evaluation of therapeutic efficacy and detection of minimal residual disease.