JAK2V617F点突变与真性红细胞增多症的临床相关性研究

为探讨真性红细胞增多症（polycythemia vera，PV）JAK2V617F点突变的临床意义，应用等位基因特异性-聚合酶链反应（AS—PCR）检测50例患者的JAK2V617F点突变，并分析比较JAK2V617F点突变阳性与阴性两组患者的临床特征及实验室指标。结果显示：50例PV患者中31例存在JAK2V617F点突变，突变率为62．0％。12例（24．0％）患者发生血栓及微血管障碍，3例存在核型异常。JAK2V617F点突变阳性和阴性两组患者初诊时的年龄（57．5±10．0 vs 45．6±14．9，P〈0．05）和白细胞计数（16．2±6．7 vs 9．0±5．2，p〈0．05）有统计学差异。结论：PV患者的JAK2V617F点突变阳性率为62．0％，JAK2V617F点突变阳性患者的年龄和白细胞计数高于阴性患者。

Correlations of JAK2V617F Point Mutation with Clinical and Laboratory Features in Patients with Polycythemia Vera

To evaluate JAK2V617F point mutation in patients with polycythemia vera （PV） and its clinical significance, the point mutation was detected by allele specific polymerase chain reaction （AS-PCR）, and the clinical and laboratory features of 50 PV patients with JAK2V617F positive and negative mutations were analyzed and compared each other. The results showed that among 50 patients, 31 patients （62.0%） had JAK2V617F point mutation; 12 paients （24.0%） showed thrombosis and microvascular disturbances; 3 patients had chromosome karyotype abnormalities. As compared with negative mutation group, the age and leukocyte count in patients with JAK2V617F point mutation were older （57.5 ＋ 10.0 vs 45.6 ＋ 14.9, p 〈 0.05 ） and higher （ 16.2 ＋ 6.7 vs 9.0±5.2, p 〈 0.05 ） respectively. It is concluded that the frequency of the JAK2V617F point mutation is 62.0% in PV patients, the age and leukocyte count of patients with JAK2V617F point mutation are older and higher respectively than those in negative mutation group.