Analysis of JAK2V617F mutation in Chinese patients with myeloproliferative disorders

Abstract

It is now well-recognized that the activating JAK2V617F mutation occurs in the majority of patients with polycythemia vera (PV) and approximately half of those with either essential thrombocythemia (ET) or myelofibrosis with myeloid metaplasia (MMM). Here we analyzed JAK2 V617F mutation in 137 Chinese patients with myeloproliferative disorders by allele-specific polymerase chain reaction (PCR). DNA was extracted from methanol/acetic acid-fixed cells that had been routinely prepared for cytogenetic analysis. A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM. © 2007 Wiley-Liss, Inc.