青海140例典型骨髓增殖性疾病患者蛋白激酶JAK2V617F点突变的检测分析  

DETECTION AND ANALSIS OF TYROSINE KINASE JAK2 V617F MUTATION IN 140 PATIENTS WITH TYPICAL HUMAN MYELOPROLIFERATIVE DISORDERS IN QINGHAI PROVINCE

作　　者：艾国[1] 刘昕[2] 李文倩[1] 冯建明[1] 李建平[1] 

机构地区：[1]青海省人民医院血液科 [2]兰州大学基础医学院

出　　处：《青海医学院学报》2011年第2期81-85,共5页Journal of Qinghai Medical College

摘　　要：目的检测和分析青海典型骨髓增殖性疾病(myeloproliferative disorders,MPD)患者JAK2V617F点突变的突变率,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),对青海省140例MPD患者及同期5例高原红细胞增高症患者JAK2基因的V617F点突变进行扩增,并对该突变阳性者进行测序验证。结果 140例MPD患者中,慢性粒细胞白血病(CML)、真性红细胞增多症(PV)、原发性血小板增多症(ET)和特发性骨髓纤维化(IMF)患者JAK2V617F突变阳性率依次为0%、75%、30%、50%;5例高原红细胞增多症患者均为阴性。结论 JAK2V617F点突变检测有助于不同类型MPD的诊断,可用于真性红细胞增多症与高原红细胞增多症的鉴别诊断。Objective To evaluate the significance of JAK2V617F in genetic diagnosis and differential diagnosis of MPD by detecting JAK2V617F mutation in patients with typical myeloproliferative disorders（MPD） in Qinghai province.Methods The JAK2V617F mutation was detected in 140 patients with MPD by AS-PCR and the positive cases with the JAK2V617F mutation were further checked by sequencing.Results In 140 Patients with MPD,the positive rates of JAK2V617F mutation in patients with chronic myeloid leukemia,polycythemia vera,essential thrombocythemia and idiopathic myelofibrosis are 0%,75%,30% and 50% respectively.The results of JAK2V617F mutation in 5 patients with high altitude erythrocytosis were all negative.Conclusion The detection of AK2V617F mutation is helpful for the diagnosis of different types of myeloproliferative disorders,such as polycythemia vera,essential thrombocythemia,idiopathic myelofibrosis,etc.And it is helpful for the differential diagnosis between polycythemia vera and high altitude polycythemia.

关 键 词：青海省 骨髓增殖性疾病 JAK2V617F 点突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]