高分辨熔解曲线法检测骨髓增殖性肿瘤患者JAK2V617F基因突变  

High Resolution Melting Analysis for Detecting of JAK2V617F Mutation in Patients with Myeloproliferative Neoplasms

作　　者：陈海华 杨继龙[2] 卢会芳[2] 周炜均[2] 姚飞 邓兰[2] 

机构地区：[1]翁源县人民医院内三科,广东韶关512600 [2]南方医科大学珠江医院血液科,广东广州510282 [3]广州好芝生物科技有限公司,广东广州510663

出　　处：《中国实验血液学杂志》2014年第1期112-116,共5页Journal of Experimental Hematology

摘　　要：本研究探讨高分辨率熔解曲线(High resolution melting,HRM)法检测骨髓增殖性肿瘤(MPN)患者JAK2V617F基因突变的可行性。随机抽取29份2008年1月至2011年1月确诊为MPN患者的骨髓标本,应用HRM法检测JAK2V617F基因突变情况,并与等位基因特异性聚合酶链反应(AS-PCR)和测序法的检测结果比较分析。结果表明,经HRM法检测,在29份MPN患者骨髓标本中检出JAK2V617F突变阳性11例,突变率为37.9%;与基因测序法比较,结果完全一致,符合率100%。而AS-PCR法与测序法比较,Kappa=0.179,P=0.316,一致性强度较差。结论:HRM方法具有简便、快速、特异性高等优点,可作为临床JAK2V617F基因突变的优选方法。This study was purposed to investigate the feasibility of high resolution melting （HRM） in the detection of JAK2V617F mutation in patients with myeloproliferative neoplasm （MPN）.The 29 marrow samples randomly selected from patients with clinically diagnosed MPN from January 2008 to January 2011 were detected by HRM method.The results of HRM analysis were compared with that detected by allele specific polymerase chain reaction （AS-PCR） and DNA direct sequencing.The results showed that the JAK2V617F mutations were detected in 11 （37.9％,11/29） cases by HRM,and its comparability with the direct sequencing result was 100％.While the consistency of AS-PCR with the direct sequencing was moderate （Kappa =0.179,P =0.316）.It is concluded that the HRM analysis may be an optimal method for clinical screening of JAK2V617F mutation due to its simplicity and promptness with a high specificity.

关 键 词：高分辨率熔解曲线 JAK2V617F突变 骨髓增殖性肿瘤 

分 类 号：R551.3[医药卫生—血液循环系统疾病]