The Jak2v617f Point Mutation In Myeloproliferative Disorders In The Preliminary Studies

Objectives: To define the correlation between JAK2V617F and myeloproliferative disorders (MPD). To identify the JAK2V617F mutation in samples with MPD. We study the distribution of JAK2V617F and a retrospective study is performed to explore the correlation between JAK2V617F mutation and hematologic features. We study its significance in the diagnosis and therapy of MPD.Methods: Firstly, samples were collected from patients with myeloproliferative disorders from January to December in 2007,diagnosis according to the WHO classification. Fifty five patients including 20 PV,32 ET and 3 IMF and sixteen controls were investigated. Secondly, genomic DNA were extracted from 55 samples of peripherd blood or bone marrow from patients with MPD. Thirdly, using the allele-specific polymerase chain reaction (AS-PCR) to analyze the genomic DNA and JAK2V617F mutation was detected with gel electrophokesis. The positive samlples have two amplified fragments that are 451bp and 279bp.The negative ones have only one fragment that is 451bp. Fourthly, sequence analysis of PCR products from selected patients confirmed the coexistence of both mutant and wild-type alleles. Finaly, the results were analyzed by t test (for continuons variables), chi-square test (for categorical variables).Results: The JAK2V671F mutation was identified in 14 out of 20 polycythemia vera ,17 of 32 essential thrombocythemia and no positive samples with idiopathic mylofibrosis was detected. Patients with PV carring JAK2V617F mutation had elevated white cell and platelet counts.Conclusions: JAK2V617F mutation was in a significant percentage of samples with the myloproliferative disorders. The difference of mutation frequencies among PV and ET was not of statistical significance(P>0.05),which suggested that JAK2V617F mutation be a characteristic molecular event in MPD and may serve as an important molecular marker for the diagnosis of MPD.