Myelodysplastic syndrome (MDS) refers to a group of diseases derived from heterogeneous cloning of hematopoietic stem cells,which is characterized by cytopenia associated with ineffective hematopoiesis and a high risk of progression to acute leukemia. In the past decade,our knowledge about the genetics of MDS has been substantially improved due to the rapid development of sequencing technology,which facilitates the early diagnosis,risk stratification,interpretation of pathogenesis and the improvement of treatment of the disease. Here we review the recent literatures about the genetic abnormalities related to MDS.