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目的研究慢性骨髓增殖性疾病(CMPDs)获得性JAK2V617F突变检测方法。方法应用高分辨熔解曲线分析技术(HRM),对前期经等位基因特异性PCR法(AS-PCR)分析过的36例CMPDs样本进行JAK2V617F基因突变检测,并与AS-PCR检测情况进行比较分析,结果经测序验证。结果 36例CMPDs样本均得到可供分析的JAK2V617F基因突变HRM检测结果,与AS-PCR法相比较,二者的符合率为97%(35/36);只有一份样本结果不相符,经测序验证,结果与HRM检测相一致;HRM检测的敏感性和特异性均达100%。结论应用HRM技术检测JAK2V617F突变快速简便、而且敏感,是一项适合临床开展的新方法,可用于临床辅助CMPDs的诊断。
Objective To investigate the detection of acquired JAK2V617F mutation in chronic myeloproliferative diseases (CMPDs). Methods 36 samples of CMPDs analyzed by allele-specific PCR (AS-PCR) were detected by high resolution melting curve analysis (HRM). The JAK2V617F gene mutation was detected and compared with that of AS-PCR Results were verified by sequencing. Results All of the 36 samples of CMPDs were analyzed by HRM. The coincidence rate of JAK2V617F mutation was 97% (35/36) compared with that of AS-PCR. Only one sample did not accord with the result of sequencing, , The result is consistent with HRM detection; HRM detection of the sensitivity and specificity of up to 100%. Conclusion The detection of JAK2V617F mutation using HRM technology is rapid and easy and sensitive. It is a new method suitable for clinical development and can be used in clinical diagnosis of CMPDs.