骨髓增生异常综合征患者SFRP5基因启动子区甲基化状态研究

背景：SFRP5基因启动子区的甲基化与急性髓系白血病的发生密切相关。作为白血病的前期，骨髓增生异常综合征患者中SFRP5基因启动子区的甲基化状态尚不清楚。 目的：探索骨髓增生异常综合征中WNT/β-catenin信号传导通路拮抗基因分泌型卷曲相关蛋白5(SFRP5)基因的甲基化状态。 方法：应用甲基化特异性PCR(MSP)法对43例骨髓增生异常综合征患者的骨髓或外周血进行SFRP5基因启动子区甲基化状况检测，并以70例门诊普通患者的外周血作为对照。 结果与结论：113例样本均成功进行了MSP检测，进入结果分析。43例骨髓增生异常综合征患者中检出5例(11.6%)SFRP5的甲基化，70例正常对照中检出1例(1.4%)SFRP5的甲基化，并且均为不完全甲基化状态。SFRP5在骨髓增生异常综合征患者中的甲基化率显著高于正常对照(χ²=5.511，P=0.019)。43例患者样本中，17例为骨髓样本，26例为外周血样本。而5例甲基化的样本中，2例为骨髓样本，3例为外周血样本。样本的来源(骨髓/外周血)对于甲基化状态的结果无显著差异(χ²=0.001，P=0.982)。提示，SFRP5基因的甲基化与骨髓增生异常综合征有相关性，SFRP5基因的甲基化可能是引起骨髓增生异常综合征的分子机制之一。

Methylation status in the promoter region of secreted frizzled related protein 5 gene in patients with myelodyplastic syndrome

BACKGROUND:Methylation in the promoter region of secreted frizzled related protein 5 (SFRP5) gene is closely related to acute myeloid leukemia. As a pre-leukemia, methylation status in the promoter region of SFRP5 gene in patients with myelodyplastic syndrome (MDS) remains unclear. OBJECTIVE:To investigate the methylation status in the promoter region of SFRP5 gene in patient with MDS. METHODS:Methylation specific PCR (MSP) method was applied to examine the promoter methylation of SFRP5 gene in 43 bone marrow or peripheral blood samples of MDS patients, and 70 normal peripheral blood samples from volunteers of general outpatients as controls. RESULTS AND CONCLUSION:All 113 samples were involved for the results analysis. In 43 patients of MDS, 5 samples (11.6%) showed SFRP5 gene methylation. In 70 controls, 1 sample showed SFRP5 gene methylation. And all of them were part-methylation status. The frequency of SFRP5 gene methylation in MDS patients was significantly higher than that in controls (χ²=5.511, P=0.019). Of the 43 MDS patients’ samples, 17 cases were bone marrow samples, 26 cases were peripheral blood samples. Of the 5 SFRP5 gene methylation samples, 2 cases were bone marrow samples and 3 cases were peripheral blood samples. There was no significant difference between the different sample source (bone marrow or peripheral blood ) for the results of the methylation status (χ²=0.001, P=0.982). The methylation status of SFRP5 gene was correlated with MDS. The methylation of SFRP5 gene may be one of the molecular mechanisms that contributes to the prognosis of patients with MDS.