Hu Guo-Yu, Deng Ming-Yang, Zhang Guang-Sen, Luo Yun-Ya, Zhu Jian-Feng
Department of Hematology, the Second Xiangya Hospital of Central South University, Changsha, China.
Zhonghua Xue Ye Xue Za Zhi. 2009 Jun;30(6):394-8.
To investigate the frequency of JAK2 V617F mutation in 145 myeloproliferative disorders (MPDs) patients, analyze the correlation between JAK2 V617F mutation and clinical features.
The JAK2 V617F mutation was detected by direct DNA sequencing of PCR product and allele-specific PCR respectively. The expression of JAK2, phospho-JAK2 and phospho-STAT5 proteins was determined by Western blot. The clinical data of MPDs patients with or without JAK2 V617F mutation was collected and analyzed for evaluating the clinical significance of JAK2 V617F mutation.
MPDs patients display higher frequency of JAK2 V617F mutation. JAK2 V617F mutation positive patients predispose to a thrombosis tendency.
研究145例骨髓增殖性疾病（MPDs）患者中JAK2 V617F突变的发生率，分析JAK2 V617F突变与临床特征之间的相关性。
分别采用PCR产物直接DNA测序法和等位基因特异性PCR法检测JAK2 V617F突变。通过蛋白质免疫印迹法检测JAK2、磷酸化JAK2和磷酸化STAT5蛋白的表达。收集并分析有或无JAK2 V617F突变的MPDs患者的临床资料，以评估JAK2 V617F突变的临床意义。
1）真性红细胞增多症（PV）、原发性骨髓纤维化（IMF）、原发性血小板增多症（ET）患者中JAK2 V617F突变的发生率分别为92%、58%、50%。与传统DNA测序法（PV分别为84%、IMF为44%、ET为39%）相比，等位基因特异性PCR法在JAK2 V617F突变检测中表现出更高的灵敏度。2）JAK2 V617F阳性患者外周血单个核细胞（PBMNCs）中磷酸化JAK2和磷酸化STAT5的表达水平明显高于JAK2 V617F阴性患者。3）与无JAK2 V617F突变的患者相比，JAK2 V617F阳性患者具有以下特征：发病年龄较大、平均白细胞计数较高、血小板计数较低和脾脏体积较小。JAK2 V617F阳性组中PV、ET、IMF患者的血栓形成事件发生率分别为17%、32%、16%，JAK2 V617F阴性组中PV为0%、ET为16%、IMF为5%。
MPDs患者中JAK2 V617F突变的发生率较高。JAK2 V617F突变阳性患者易发生血栓形成倾向。
