JAK2 V617F阴性骨髓增殖性肿瘤患者MPL exon10突变
检测
陈秀花;王宏伟;齐喜玲;覃艳红;李秋杏;乔娜;张丽;任方刚
【期刊名称】《白血病·淋巴瘤》 【年(卷),期】2010(019)009
【摘要】目的 探讨MPLexon10突变在JAK2V617F阴性骨髓增殖性肿瘤(MPN)中的发生情况.方法 对235例MPN患者进行JAK2 V617F检测,对检出的103例阴性患者应用等位基因特异性聚合酶链反应(ASP-PCR)联合测序检测MPL exon10已知基因突变MPLW515K/L;应用DNA单链构象多态性聚合酶链反应(SSCP-PCR)联合测序检测MPL exon10未知突变.结果 103例JAK2 V617F阴性MPN患者中MPLW515K/L检出1例MPLW515K(TGG→AAG),为原发性骨髓纤维化(PMF)患者;MPLexon10未知突变检测发现1例原发性血小板增多症(ET)患者存在新的突变类型,即MPL核苷酸1491-1492位之间插入12个碱基(CTGGTGATCGCT),且为纯合突变.结论 JAK2 V617F阴性MPN患者在MPL基因exon10区域内除已知W515K/L突变外尚存在新的突变位点,但突变率较低.%Objective To explore the frequencies of MPL exon 10 mutations in JAK2 V617F-negative myeloproliferative neoplasms patients. Methods MPLW515K/L was processed through allele-specific PGR combined with direct sequence analysis. The mutations of others MPL exon 10 were detected by single strand conformation polymorphism PGR (PCR-SSCP) combined with direct sequencing. Results Of the 103 patients with JAK2 V617F-negtive myeloproliferative
JAK2 V617F阴性骨髓增殖性肿瘤患者MPL exon10突变检测
