JAK2V617F点突变与骨髓增殖性疾病的临床相关性研究  

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

作　　者：金茜[1] 杜博[1] 李晶波[2] 张淑云[1] 房绍红[1] 

机构地区：[1]哈尔滨医科大学附属第二医院科研实验中心,黑龙江哈尔滨150081 [2]哈尔滨医科大学附属第二医院麻醉教研室,黑龙江哈尔滨150081

出　　处：《现代生物医学进展》2012年第12期2250-2253,共4页Progress in Modern Biomedicine

基　　金：黑龙江省教育厅课题(12511301)

摘　　要：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。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.

关 键 词：骨髓增殖性疾病 JAK2V617F点突变 AS-PCR 

分 类 号：R558.3[医药卫生—血液循环系统疾病]