CAJ | 학술논문

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).③ JAK2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.
목적 연구유오이족골수증식성종류(MPN)환자JAK2 V617F기인(이하간칭JAK2기인)돌변솔급기여림상특정적상관성,동시탐토해돌변재한족화유오이족MPN환자중적차이성.방법 채용등위기인특이성PCR(AS-PCR)방법,대134례(유오이족55례、한족79례)bcr-abl음성MPN 환자진행JAK2기인돌변검측.결과 ①MPN환자중JAK2기인총돌변솔73.1%(134례중98례).진성홍세포증다증(PV)、원발성혈소판증다증(ET)급원발성골수섬유화(IMF)환자JAK2기인돌변양성솔분별위84.3%(51례중43례)、69.7%(66례중46례)급52.9%(17례중9례),차이균유통계학의의(P<0.05).②한족MPN환자중JAK2기인돌변양성솔위78.5%(79례중62례),유오이족MPN환자중돌변양성솔위65.5%(55례중36례),량족환자JAK2기인돌변총양성솔비교차이무통계학의의(P>0.05).분별분석PV、ET급IMT삼조환자중한족화유오이족환자적돌변솔,차이균무통계학의의(P>0.05).③ JAK2기인돌변양성환자기혈상규지표명현고우JAK2음성환자,출현비장종대、병발혈전출혈급전화적개솔명현증고(P<0.05);이이상림상특정재량민족간적차이균무통계학의의(P>0.05).결론 PV、ET급IMF등경전MPN환자중균유교고적JAK2 기인돌변솔;한족여유오이족MPN환자해기인돌변솔、림상특정급병발증등방면적차이균무통계학의의,표명 JAK2 기인점돌변재불동지역화인충적MPN 환자중차이불현저,기가능구유상동적분자발병궤제.
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 ①JAK2 mutation rate was 73.1%（98/134）;The mutation rates of polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis were 84.3%（43/51）, 69.7%（46/66）and 52.9%（9/17）, respectively（P<0.05）. ②The difference of mutation rate in Han [78.5% (62/79)] and Uyghur [65.5%(36/55)] 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 features between two ethnic groups were not significant (P>0.05). Conclusion JAK2 gene mutation occurred 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 different regions and ethnics may have the same molecular pathogenesis.