一些基因的表达受其DNA甲基化的调控，在骨髓增生异常综合征（MDS）的发病和疾病进展中起着重要作用，该疾病以髓系细胞异常分化和发育为特征。因此，研究调控U2AF1基因表达和羟甲基化的因素在MDS患者中的重要性不言而喻。然而，TET蛋白家族成员可以将5-甲基胞嘧啶（5mC）转化为5-羟甲基胞嘧啶（5hmC）。通常情况下，5mC和5hmC水平保持动态平衡，它们的不平衡与一些肿瘤的发病和进展有关。在本研究中，经过5-脱氧胞苷处理的Mutz-1细胞中，U2AF1基因的表达和5mC以及5hmC水平显著下降。其中5hmC的下降程度明显大于5mC。IDH2的表达也显著下降，其后是U2AF1的5hmC水平。然而，其他羟甲基化相关基因的表达如IDH1、TET1和TET2也下降了，但其差异并未达到显著水平。与IDH2或U2AF1野生型MDS患者相比，这两个基因突变患者中U2AF1的表达和5hmC水平都显著降低。

The expression of some genes regulated by their DNA methylation is involved in pathogenesis and disease progression of myelodysplastic syndrome (MDS), which is characterised by abnormal differentiation and development of myeloid cells. Therefore, it is significant for us to work on investigating what factors regulate U2AF1 expression and hydroxymethylation in MDS patients. However, the members of TET protein family can change 5-methylcytosine (5mC) into 5-hydroxymethylcytosine5-methyl cytosine (5hmC). In general, 5mC and 5hmC levels maintain dynamic equilibrium, and their imbalance is associated with the onset and progression of some tumors. In this study, the expression and 5mC and 5hmC levels of U2AF1 gene decreased significantly after the treatment by decitabine in Mutz-1 cells. The decreased degree of 5hmC is far greater than that of 5mC. IDH2 expression decreased significantly followed by U2AF1 5hmC levels. However, the expression of other hydroxymethylation-related genes such as IDH1, TET1 and TET2 also decreased, but the difference did not achieve significance. Compared with IDH2 or U2AF1 wild-type MDS patients, U2AF1 expression and 5hmC level in patients with these two gene mutations were both significantly reduced.