DNA甲基化与骨髓增生异常综合征的研究进展

表观遗传学是指在不改变DNA序列的条件下所发生的可遗传基因表达的变化。DNA甲基化是表观遗传修饰中一种最为重要的DNA修饰。通常情况下,基因表达水平与DNA甲基化呈负相关,基因启动子区域甲基化从而导致该基因沉默。骨髓增生异常综合征（MDS）患者DNA异常甲基化与疾病的发生、发展、预后及治疗反应密切相关。文章就DNA甲基化机制及其特点、MDS患者异常甲基化、DNA甲基化在MDS进展中的作用、去甲基化药物的作用机制及其临床应用进行综述。

Research progress of DNA methylation and myelodysplastic syndrome

Epigenetics is defined as the investigation of heritable changes in gene expression that occurs without a change in DNA seguence. DNA methylation is one of the most important and distinct forms of epigenetic modification. Under usual conditions, there is an inverse correlation between gene expression level and DNA methylation. The gene can be silenced by DNA promoter methylation. Abnormalities of DNA methylation in patients with MDS are closely related to the occurrence, development, prognosis and treatment response of the disease. The mechanism and characteristics of DNA methylation, the abnormalities of DNA methylation in patients with MDS, the effect of DNA methylation in progress of MDS and mechanism and clinical application of demethylating agent are reviewed in this paper.