The Study Of Tyrosine Kinase JAK2V617F Mutation In Human Myeloproliferative Disorders

Objective:To detect the JAK2V617F mutation in myeloproliferative disorders (MPD)by allele-specific primer polymerase chain reaction and evaluate the significance of JAK2V617F in diagnosis and therapy of MPD.Methods:1 The bcr/abl fusion gene was detected in 70 patients with MPD by the reverse transcription polymerase chain reaction(PT-PCR).2 The JAK2V617F mutation was detected in 70 patients with MPD by allele-specific polymerase chain reaction(AS-PCR)and the positive cases with the mutation were checked by sequencing.Results:1 The bcr/abl fusion gene was detected in 38 patients with chronic myelocytic leukemia,but was not detected in any of the 32 none chronic myelocytic leukemia patients.2 The JAK2V617F mutation was detected in 12 of 16(75%)patients with polycythemia vera,3 of 10(30%)with essential thrombocythemia,3 of 6(50%)with idiopathic myelofibrosis,but was not detected in any of the chronic myelocytic leukemia patients.Conclusion:1 The JAK2V617F was only found in bcr/abl negtive MPD patients.2 The difference of mutation frequencies among polycythemia vera,essential thrombocythemia and idiopathic myelofibrosis patients was of no statistical significance(P＞0.05). 3 The JAK2V617F may be a characteristic molecular event in polycythemia vera,essential thrombocythemia and idiopathic myelofibrosis patients.It may serve as an important molecular marker for the diagnosis and classification of these three diseases.