摘要
目的研究原发性血小板增多症（ET）患者JAK2基因突变的发生情况及其与临床指标的相关性。方法采用等位基因特异性PCR方法及直接测序，检测90例ET患者外周血单个核细胞JAK2V617F的发生情况。结果90例ET患者中检出49例（54．4％）存在JAK2V617F突变；突变型组患者平均年龄为（55±16）岁。高于野生型组的（38±15）岁（P〈0．05），突变型组患者的外周血白细胞计数[（18．9±8．2）×10^9／L]明显高于野生型组[（9．7±6．7）×10^/L机上患者（P〈0．01），两组患者的血红蛋白水平及血小板计数的差异无统计学差异（．P〉0．05）突变型组患者血栓事件发生率（52．9％）明显高于野生型组（15．4％）患者（P〈0．05）。结论ET患者中JAK2V617F突变的发生率较高，JAK2V617F突变与ET患者年龄、外周血白细胞计数及血栓事件具有相关性。
Objective To evaluate the prevalence of JAK2V617F mutation in Chinese patients with essential thrombocythemia （ET） and its clinical characteristics. Methods Genomic DNA from 90 patients with ET were screened with allelespecific polymerase chain reaction （PCR） and sequencing.Results JAK2V617F mutation was detected in 49（54.4%） of the 90 patients with ET.Peripheral WBC count was higher for JAK2V617F patients compared with wide-type JAK2（wtJAK2） patients [（18.9±8.2）×10^9/L], vs （9.7×6.7） ×10^9/L, P〈0.01].There was no significant difference in hemoglobin level, platelet counts between patients with JAK2V617F and wtJAK2. The incidence ofthrombus affairs in JAK2V617F patients was higher than those in wtJAK2.Conclusions Occurrence of the JAK2V617F mutation is common in Chinese patients with ET, especially in elderly patients, and is associated with higher WBC count. The JAK2V617F mutation confers higher risk of thrombus affairs.
出处
《中国血液流变学杂志》
CAS
2009年第2期230-233,共4页
Chinese Journal of Hemorheology
