目的：检测BCRABL融合基因阴性的骨髓增殖性疾病（myeloproliferative disorders，MPD）患者的JAK2 V617F突变率，探讨其与MPD患者临床特征间的关系。方法：选择山东大学附属省立医院确诊的56例BCRABL阴性的MPD患者为研究对象，其中真性红细胞增多症（polycythaemia vera，PV）20例、原发性血小板增多症（essential thrombocythaemia，ET）26例，特发性骨髓纤维化（idiopathic myelofibrosis，IMF）10例。应用等位基因特异性PCR（allelespecific polymerase chain reaction，ASPCR）和基因测序检测MPD患者JAK2 V617F突变情况，分析各组MPD患者JAK2 V617F突变与MPD临床特征间的关系。结果：56例MPD患者中36例检出JAK2 V617F突变，突变率分别为ET患者53.8%（14/26），PV患者85%（17/20），IMF患者50%（5/10）。JAK2 V617F突变阳性的MPD患者与突变阴性者相比，在血象方面：PV患者的白细胞（P= 0.018）、血小板计数（P= 0.021）；ET患者的白细胞计数（P= 0.001）、血红蛋白（P= 0.007）；IMF患者的白细胞计数（P= 0.026）差异均有统计学意义。在并发症方面：ET组中JAK2 V617F突变阳性的患者出血、血栓并发症的发生率更高（P= 0.016），PV及IMF组中差异无统计学意义。结论：ASPCR可有效检测JAK2 V617F突变的发生，JAK2 V617F突变阳性的MPD患者与突变阴性者在临床特征上有较明显的差异。

Objective:To examine JAK2V617F mutation in BCRABL negative patients with myeloproliferative disorders (MPD) and its relationship with clinical characteristics of MPD.Methods: Fiftysix BCRABL negative MPD patients (who had been diagnosed in the Provincial Hospital Affiliated to Shandong University) were included in the present study. The patients included 20 with polycythaemia vera (PV), 26 with essential thrombocythaemia (ET) and 10 with idiopathic myelofibrosis (IMF). JAK2V617F mutation in MPD patients was detected by allelespecific polymerase chain reaction (ASPCR) and DNAsequencing, and its correlation with clinical characteristics of MPD was analyzed. Results: JAK2 V617F mutation was detected in 36 of the 56 BCRABL negative MPD patients, including 17 (17/20, 85%) with PV, 14 (14/26, 53.8%) with ET, and 5 (5/10, 50%) with IMF. The leukocyte (P=0.018) and platelet counts (P=0.021) were significantly different between JAK2V617 positive and negative MPD patients in PV group; the leukocyte counts (P=0.001) and hemoglobin (P=0.007) were significantly different in ET group; and the leukocyte counts were significantly different (P=0026) in IMF group. Significant difference was also found in the incidences of bleeding, thrombosis between JAK2V617 positive and negative patients in ET group(P=0.016), but not in PV or IMF group. Conclusion: ASPCR is a sensitive and reliable technique in detecting JAK2 V617F mutation. The clinical characteristics of JAK2 V617F mutantion positive MPD patients are different from those without the mutation.

山东省自然科学基金资助项目（No.Y2007C059）