摘要
为探讨jak2v617f点突变与原发性血小板增多症(primary throm bocythemia,PT)的临床相关性,回顾性统计66例PT患者的临床及实验室检查资料,应用等位基因特异性-聚合酶链反应(AS-PCR)检测jak2v617f点突变,分析比较jak2v617f点突变阳性与阴性两组患者的临床及实验室指标。结果显示:66例PT患者中27例存在jak2v617f点突变,突变率为41%。jak2v617f点突变阳性和阴性两组患者初诊时骨髓红系百分比为(26.9±9.4)%和(16.3±8.7)%(p<0.05),粒红比为2.9±1.8和5.2±2.9(p<0.05),初诊及随访过程中微血管障碍发生率为29.6%和5.1%(p<0.05),差异有统计学意义;骨髓粒系百分比、外周血白细胞计数、血红蛋白、血小板计数及血栓事件发生率均无统计学差异。结论:AS-PCR检测原发性血小板增多症患者中jak2v617f点突变阳性率为41%,jak2v617f点突变阳性的原发性血小板增多症患者初诊时骨髓红系增生明显活跃。
To evaluate the frequency of jak2v617 f mutation and analyze its correlation with clinical features of primary thrombocythemia （PT） patients, the mutation was detected by allele specific polymerase chain reaction （AS-PCR）, the clinical and laboratory datas in 66 PT patients with and without jak2v617f mutation were compared and clinical features of these PT patients were retrospectively analyzed. The results showed that among 66 patients, 27 patients （41%） had the mutation. The patients carrying the mutation displayed higher bone marrow erythropoiesis （26.9% ± 9.4% vs 16. 3% ± 8.7%, p 〈 0.05 ）, higher ratio of granulopoiesis/erythropoiesis（ 2.9 ± 1.8 vs 5.2 ± 2.9, p 〈 0.05 ） and higher incidence of microvascular disturbances（ 29.6% vs 5.1%, p 〈 0.05 ）. However, the age, gender, leukocyte and platelet counts, hemoglobin level, bone granulopoiesis, splenomegaly, history of thrombosis and hemorrhage had no difference between patients with and without the mutation. It is concluded that the frequency of jak2v617f mutation in primary thrombocythemia patients is 41%. The presence of the jak2v617f mutation is associated with a higher bone marrow erythropoiesis in primary thrombocythemia patients at dignosis.
出处
《中国实验血液学杂志》
CAS
CSCD
2008年第2期416-420,共5页
Journal of Experimental Hematology
基金
南京市医学科技重点项目,编号ZKX06013
