高分辨率熔解曲线分析法检测急性髓系白血病c-kit基因突变  

Scanning of c-kit gene mutations in acute myeloid leukemias using high-resolution melting analysis

作　　者：姚冬明[1] 钱军[1] 林江 陈芹[1] 肖高飞 王雅丽[1] 钱震[1] 纪润璧 李云[1] 杨静[1] 

机构地区：[1]江苏大学附属人民医院血液科,镇江212002 [2]江苏镇江市实验血液学重点实验室

出　　处：《中华血液学杂志》2011年第1期21-24,共4页Chinese Journal of Hematology

基　　金：江苏省医学重点人才资助项目（RC2007035）;江苏省自然科学基金（BK2009206）;江苏省科教兴卫工程苏大附一院血液病学开放课题（KF200944）

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.Objective 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.

关 键 词：高分辨率熔解分析 易位 遗传 白血病 非淋巴细胞 急性 基因 c-kit DNA突变分析 

分 类 号：R733.71[医药卫生—肿瘤]