JAK2V617F 点突变与骨髓增殖性疾病的临床相关性研究

目的:研究JAK2V617F点突变与骨髓增殖性疾病(myeloproliferative disease,MPD)的临床相关性,为MPD的基因学诊断及靶向治疗提供理论依据。方法:应用等位基因特异性聚合酶链反应(AS-PCR)检测JAK2V617F点突变。结果:102例的MPD患者中包括慢性粒细胞白血病(CML)患者9例、真性红细胞增多症(PV)患者21例、原发性血小板增多症(ET)患者37例、特发性骨髓纤维化(IMF)患者16例和分类不明的骨髓增殖性疾病(uMPD)患者19例,JAK2V617F突变阳性率依次为11%、71.4%、51.4%、75.0%、78.9%。结论:JAK2V617F点突变有助于不同类型MPD的诊断,在MPD疾病的诊断中起重要作用。

Correlations of JAK2V617F Mutation with Clinical and Laboratory Findings in Myeloproliferative Disease

Objective: To investigate the frequency of JAK2V617F mutation and analyze its correlation with myeloproliferative disease,in order to provide theoretical basis for gene diagnosis and targeted therapy.Methods: The JAK2V617F mutation was detected by allele specific polymerase chain reaction(AS-PCR).Result: In 102 Patients with MPD,the positive rates of JAK2V617F mutation in patients with 9 patients of chronic myeloid leukemia,21 patients of polycythemia vera,37 patients of essential thrombocythemia and 16 patients of idiopathic myelofibrosis are 11%,71.4%,51.4% 75% and 78.9% respectively.Conclusions: JAK2V617F mutation plays an im-portant role in the pathogenesis of MPD.The detection of JAK2V617F mutation is helpful for the diagnosis of different types of myelo-proliferative disorders such as polycythemia vera,essential thrombocythemia,idiopathic myelofibrosis and uMPD etc.