A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders

摘要: background Polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis are clonal myeloproliferative disorders arising from a multipotent progenitor. The loss of heterozygosity (LOH) on the short arm chromosome 9 (9pLOH) in suggests that 9p harbors mutation contributes to cause expansion hematopoietic cells these diseases. methods We performed microsatellite mapping 9pLOH region DNA sequencing 244 patients with (128 polycythemia 93 23 myelofibrosis). results Microsatellite identified included Janus kinase 2 ( JAK2 )