摘要目的 应用高分辨率熔解(HRM)曲线分析法检测急性髓系白血病(AML)患者c-kit基因常见突变N822K和D816V.方法 对21例t(8;21)阳性AML患者骨髓标本的c-kit基因第17号外显子进行PCR扩增、HRM突变检测及DNA测序验证.结果 HRM分析发现21例患者中6例(28.6%)的c-kit基因扩增产物出现异常熔解曲线,经测序验证1例为D816V杂合子突变,5例为N822K杂合子突变.结论 HRM分析是一种简便、快速、特异和高通量的c-kit基因突变筛查方法.

abstractsObjective To detect the common mutations (D816V and N822K) of c-kit gene in acute myeloid leukemia (AML) using high-resolution melting analysis (HRM). Methods HRM analysis was established to screen c-kit mutations in PCR products of c-kit exon 17 in 21 AML patients with t(8;21 ). PCR products were sequenced to confirm the mutation. Results HRM analysis identified an aberrant melting curve in 6 cases (28.6%), which were confirmed by direct DNA sequencing as one D816V mutation and five N822K mutation. Conclusion HRM analysis is a convenient, rapid, specific and high-throughput technique for scanning c-kit gene mutation in AML.