The myelodysplastic syndrome (MDS) is an abnormal clonal proliferation disease resulting from disorder of hematopoietic stem cells/progenitor cells and is characterized by ineffective hematopoiesis and high risk of transforming into acute leukemia. The present experimental studies in gene, chromosome, cytokines and biochemical aspects may put the genetically models for clarifying the pathogenesis of MDS, help to early evaluation of disease prognosis and eventually develop the strategies of more effective prevention and treatment methods for MDS. In this article, the advances of chromosome, gene, cytokines and biochemical aspects in pathogenesis of MDS are summarized on basis of proceedings of ASH meeting in 2007 years.