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目的:探讨中国人群慢性粒细胞白血病(chronic myeloid leukemia,CML)患者螺旋酶抗原(helicase antigen,HAGE)基因启动子的甲基化状况和临床相关性。方法:应用甲基化特异性PCR(methylation-specific PCR,MSP)技术对50例不同临床分期的CML患者骨髓标本HAGE基因启动子的甲基化状态进行检测。结果:13例(26%)CML患者存在HAGE基因启动子的低甲基化改变,而24例对照均无HAGE基因低甲基化,两组比较差异有统计学意义(P=0.007)。HAGE基因启动子低甲基化改变与CML患者的年龄、性别、白细胞计数、血红蛋白含量、血小板计数、临床分期及染色体异常均无相关性(P>0.05)。慢性期、加速期和急变期患者中HAGE基因启动子低甲基化频率分别为25%(9/36)、25%(1/4)和30%(3/10)(P>0.05)。结论:HAGE基因启动子低甲基化是CML中的常见分子事件。
Objective: To investigate the methylation status and clinical significance of promoter of helicase antigen (HAGE) gene in Chinese population with chronic myeloid leukemia (CML). Methods: The methylation status of HAGE gene promoter in 50 cases of CML patients with different clinical stages was detected by methylation-specific PCR (MSP). RESULTS: Homomorphic hypomethylation of HAGE gene was found in 13 cases (26%) of CML patients. HAGE gene hypomethylation was not found in all 24 cases. There was significant difference between the two groups (P = 0.007). The hypomethylation of HAGE gene promoter had no correlation with age, gender, white blood cell count, hemoglobin, platelet count, clinical stage and chromosomal abnormalities in CML patients (P> 0.05). The hypomethylation frequency of HAGE gene promoter was 25% (9/36), 25% (1/4) and 30% (3/10) respectively in chronic phase, accelerated phase and acute phase (P> 0.05). Conclusions: Hypothyroidism is a common molecular event in CML.