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目的为进一步明确慢性髓系白血病(CML)患者中Ph染色体阳性细胞与bcr/abl融合基因表达之间的关系和比较细胞遗传学分析与聚合酶链反应(PCR)方法在CML应用中的优缺点。方法用热变性姬姆萨R显带(RHG)技术和逆转录筑巢式聚合酶链反应(RTnestPCR)对33例CML患者的骨髓或外周血进行了分析,对其中11例异基因骨髓移植(AloBMT)或α干扰素(IFNα)+小剂量羟基脲(HU)治疗患者进行了短期随访。结果33例中29例为Ph染色体(+),30例表达bcr/ablmRNA。6例患者BMT后1~14个月,4例为Ph(-),2例为Ph(+);PCR分析2例为(-),4例为(+)。5例IFNα治疗患者,2例分别在治疗后6和12个月Ph(+)细胞百分率比治疗前有所降低。41份样品中,2种方法结果一致者34份(82.9%)。结论2种方法各有其优缺点,在CML患者的诊断和治疗监测中,最好是将细胞遗传学分析与PCR方法相结合,以便为临床提供更为真实有用的信息。
Objective To further clarify the relationship between Ph chromosome positive cells and bcr/abl fusion gene expression in chronic myeloid leukemia (CML) patients and to compare the advantages and disadvantages of cytogenetic analysis and polymerase chain reaction (PCR) methods in CML application. . Methods The bone marrow or peripheral blood of 33 patients with CML were analyzed using the thermal denaturation Giemsa R banding (RHG) technique and reverse transcription nesting polymerase chain reaction (RT-nest PCR). Patients with gene bone marrow transplantation (AloBMT) or α interferon (IFNα) plus low-dose hydroxyurea (HU) were followed up for a short period of time. Results Of the 33 cases, 29 were Ph chromosomes (+), and 30 cases expressed bcr/abl mRNA. Of the 6 patients 1 to 14 months after BMT, 4 were Ph(-) and 2 were Ph(+); PCR analysis was 2 in (-) and 4 in (+). In 5 patients treated with IFN-α, the percentage of Ph(+) cells at 2 and 6 months after treatment was lower than before treatment. Of the 41 samples, 34 results (82.9%) were consistent between the two methods. Conclusion Both methods have their own advantages and disadvantages. In the diagnosis and treatment monitoring of CML patients, it is best to combine cytogenetic analysis with PCR methods in order to provide more real and useful information for clinical practice.