The Study Of Tyrosine Kinase JAK2V617F Mutation In Human Myeloproliferative Disorders Of Qinghai Province

Objective:To detect the JAK2V617F mutation in myeloproliferative disorders(MPD) of Qinghai province by allele-specific primer polymerase chain reaction and evaluate the significance of JAK2V617F in diagnosis and therapy of MPD.Methods:1.Genomic DNA and total RNA were extracted from white blood cells and marrow respectively by route way.2.The bcr/abl fusion gene was detected in 140 Patients with MPD by the reverse transcription Polymerase chain reaction(PT-PCR).3.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:Between 140 Patients with MPD,the bcr/abl fusion gene is detected in 76 chronic myelocytic leukemia patients,others is negative,including 32 polycythemia vera,20 essential thrombocythemia,12 idiopathic myelofibrosis.The JAK2V617F mutation was not detected in 76 chronic myelocytic leukemia patients,whose bcr/abl fusion is negative.But in 24 of 32(75%) patients with polycythemia vera,6 of 20(30%) with essential thrombocythemia,6 of 12(50%) with idiopathic myelofibrosis.Conclusion:The difference of mutation frequencies among polycythemia vera,essential thrombocythemia and idiopathic myelofibrosis patients was of no statistical significance(P＞0.05).The JAK2V617F may be a characteristic molecular event in polycythemia vera,essential thrombocythemia and idiopathic myelofibrosis patients.It may serve as an important molecμlar marker for the diagnosis and classification of these three diseases.