新疆维吾尔族和汉族骨髓增殖性肿瘤患者JAK2 V617F基因突变研究及其临床意义

Detection and clinical significance of JAK2 V617F mutation in Chinese and Uyghur patients with chronic myeloproliferative in Xinjiang

目的研究维吾尔族骨髓增殖性肿瘤（MPN）患者JAK2 V617F基因（以下简称JAK2基因）突变率及其与临床特征的相关性，同时探讨该突变在汉族和维吾尔族MPN患者中的差异性。方法采用等位基因特异性PCR（AS—PCR）方法，对134例（维吾尔族55例、汉族79例）bcr-abl阴性MPN患者进行JAK2基因突变检测。结果①MPN患者中JAK2基因总突变率73．1％（134例中98例）。真性红细胞增多症（PV）、原发性血小板增多症（ET）及原发性骨髓纤维化（IMF）患者JAK2基因突变阳性率分别为84．3％（51例中43例）、69．7％（66例中46例）及52．9％（17例中9例），差异均有统计学意义（P〈0．05）。②汉族MPN患者中JAK2基因突变阳性率为78．5％（79例中62例），维吾尔族MPN患者中突变阳性率为65．5％（55例中36例），两族患者JAK2基因突变总阳性率比较差异无统计学意义（P〉0．05）。分别分析PV、ET及IMT三组患者中汉族和维吾尔族患者的突变率，差异均无统计学意义（P〉0．05）。③JAK2基因突变阳性患者其血常规指标明显高于JAK2阴性患者，出现脾脏肿大、并发血栓出血及转化的概率明显增高（P〈0．05）；而以上临床特征在两民族间的差异均无统计学意义（P〉0．05）。结论PV、ET及IMF等经典MPN患者中均有较高的JAK2基因突变率；汉族与维吾尔族MPN患者该基因突变率、临床特征及并发症等方面的差异均无统计学意义，表明JAK2基因点突变在不同地域和人种的MPN患者中差异不显著，其可能具有相同的分子发病机制。

Objective To investigate the frequency of JAK2 V617F gene （hereinafter, the JAK2 gene） mutation in Uyghur patients with chronic myeloproliferative neoplasm （MPN） and its relationship with the clinical characteristics, and further compare differences of mutation rates in Han and Uyghur patients. Methods The allele-specific polymerase chain reaction （AS-PCR） was used to detect the JAK2 mutation in 55 cases of Uyghur and 79 cases of Han bcr-abl negative MPN patients. Results （2）JAK2 mutation rate was 73.1% （98/134） ; The mutation rates of polycythemia vera, essential thrombocythemia, idiopathic myelofibro- sis were 84.3% （43/51）, 69.7% （46/66） and 52.9% （9/17）, respectively（ P 〈 0.05 ）. （1）The difference of mutation rate in Han [ 78.5% （62/79） ] and Uyghur [ 65.5% （ 36/55 ） J patients was not significant （ P 〉 0.05 ）. （3） The patients of JAK2 positive have significantly higher count of blood cells, splenomegaly, thrombosis/bleeding and transformation than those of JAK2 negative ones （ P 〈 0.05 ）, but the clinical fea- tures between two ethnic groups were not significant （ P 〉 0.05 ）. Conclusion JAK2 gene mutation occured in the majority of patients with MPN; the mutation rates, clinical features and the complications between Han and Uyghur patients were not significant, which implicated that MPN patients with JAK2 mutation from differ- ent regions and ethnics may have the same molecular pathogenesis.