BCR/ABL阴性的骨髓增殖性疾病患者JAK2V617F点突变的研究  

Study on JAK2V617F Mutation in Patients with BCR-ABL-Negative Myeloproliferative Disease

作　　者：韩瑞玲[1] 李艳[1] 汪明[1] 童永清[1] 吴薇[1] 

机构地区：[1]武汉大学人民医院检验科,武汉430060

出　　处：《现代检验医学杂志》2014年第2期29-31,共3页Journal of Modern Laboratory Medicine

基　　金：国家重大技术专项资助项目（2009ZX10004-207）;国家自然科学基金资助项目（81200389）;教育部高等学校博士学科点专项科研基金资助项目（20120141120077）.

摘　　要：目的 分析BCR/ABL阴性的骨髓增殖性疾病（MPD）患者JAK2V617F点突变的突变率及其外周血细胞水平,为其分子诊断及靶向治疗提供理论依据.方法 应用等位基因特异性聚合酶链反应（AS-PCR）,对158例初诊患者JAK2基因的V617F位点进行扩增,并对其发病年龄和临床血液学指标进行统计分析.结果 158例患者JAK2V617F总突变率为72.15％,其中真性红细胞增多症（PV） 78.46％,原发性血小板增多症（ET） 69.05％和特发性骨髓纤维化（PMF）55.56％.血液学指标显示PV患者中JAK2V617F突变型组的外周血血红蛋白水平和白细胞计数分别为（200.26±19.72）g/L,（17.57±10.96）×109/L,显著高于野生型组（t=1.636-2.406,P值均＜0.05）.ET患者中JAK2V617F突变型组的年龄、红细胞计数和白细胞计数分别为（60.41±18.52）岁,（4.72±1.51）×1012/L,（14.78±12.21）×109/L,显著高于野生型组（t=1.634-3.284,P值均＜0.05）.PMF患者中JAK2V617F点突变型组的红细胞计数和血红蛋白含量分别为（4.51±1.42）×1012/L和（135.58±34.76） g/L,显著高于野生型组（t=2.274-2.810,P值均＜0.05）.结论 JAK2V617F有助于BCR/ABL阴性的不同类型MPD的诊断.Objective To provide a theoretical basis for the molecular diagnosis and targeted treatment in patients with BCR ABI.-negative myeloproliferative disease （MPD） by analyzing the point mutation rate of JAK2V617F and clinical hematological indicators. Methods The JAK2V617F mutation were amplified in 158 patients with MPD by AS-PCR,the age of onset and clinical hematological data were further statistically analyzed. Results In 158 patients with MPD, the total mutation rate of JAK2V617F was 72.15%,including 78.46% in polycythemia vera （PV） ,69.05% in essential thrombocythemia （ET） and 55.56% in primary myelofibrosis （PMF） ,respectively. Hematological data showed that the level of peripheral blood he moglobin and white cell counts in PV patients with J AK2V617F mutant group were （200.26± 19.72） g/L and （17.57±10.96）× 10^9/L, significantly higher than that of the wild type group （t = 1. 636 ± 2. 406, P〈0.05）. In ET patients with J AK2V617F mutant group, the age, the red blood cell count and white blood cell counts were （60.41± 18.52） years old, （4.72±1.51） × 101Z/L,（14.78±12.21） × 10^9/L,significantly higher than that of the wild type group （t=1. 634-3. 284,P〈0.05）. In PMF patients with JAK2V617F mutant group,the red blood cell count and hemoglobin content were （4.51 ± 1.42） × 10^12/L and （135.58± 34.76） g/L respectively, significantly higher than that of wild type group （t=2. 274-2. 810, P〈0.05）. Conclusion The detection of JAK2V617F mutation is helpful for the diagnosis of different types of BCR ABL negative MPD.

关 键 词：骨髓增殖性疾病 点突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]