中文摘要：

目的探讨雌激素受体基因启动子区异常甲基化作为白血病早期诊断分子标志物的可能性。方法应用MSP和RT—PCR检测40例急性白血病患者（未治疗）外周血雌激素（ER）受体启动子甲基化及其表达状态，Western-blot检测白血病细胞株以5’-Aza-Dc去甲基化前后蛋白表达的差异。结果6种白血病细胞株以5iAza-Dc去甲基化后ERa蛋白表达明显增强，97．5％的急性白血病患者ERa—A启动子呈甲基化状态并导致其表达异常。结论白血病细胞的雌激素受体基因启动子（ERmA）存在异常甲基化现象并导致其基因表达沉默，可能为白血病的致病机制分析提供了一个新的方向，提示ERa—A基因启动子CPG岛的甲基化有可能成为白血病的新的参考标志物。

英文摘要：

OBJECTIVE To investigate the methylation status and mRNA expression of the estrogen receptors （ERs） gene promoter in acute leukemic patients and detect the protein expression in leukemia cell lines with or without treatment of 5＇-aza Dc. And to find out the possibility of promoters methylation profile of estrogen receptor gene as an early diagnosis biomarker in leukemia. METHODS With RT-PCR and MSP, evaluating ERs mRNA expression and status of methylation in 40 acute leukemia patients without treatment. With Western-blot, detecting protein expression in leukemic cell lines with or without treatment of 5-azaDc. RESULTS The protein expression was significantly enhanced in all of leukemic cell lines with 5CAza-Dc. ERα-A was inactivated and specifically methylated （97.5%; 39/40） in most of the acute leukemic patients. CONCLUSIONS The promoter ERa A is inactivated and specifically methylated （97. 5% ; 39/40） in most of the acute leukemic patients. This study may provide a new direction method to study the pathogenic mechanism of leukemia, and indicates that ERα- A methylation could be a potential reference marker for leukemia diagnosis.