| 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 |
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| 引用本文： | Yao DM,Qian J,Lin J,Chen Q,Xiao GF,Wang YL,Qian Z,Ji RB,Li Y,Yang J. 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[J]. 中华血液学杂志, 2011, 32(1): 21-24. DOI: 10.3760/cma.j.issn.0253-2727.2011.01.007 |
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| 作者姓名： | Yao DM Qian J Lin J Chen Q Xiao GF Wang YL Qian Z Ji RB Li Y Yang J |
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| 作者单位： | 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 |
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| 基金项目： | 江苏省医学重点人才资助项目,江苏省自然科学基金,江苏省科教兴卫工程苏大附一院血液病学开放课题 |
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| 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.Abstract：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.
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| 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 |
Scanning of c-kit gene mutations in acute myeloid leukemias using high-resolution melting analysis |
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| Yao Dong-ming,Qian Jun,Lin Jiang,Chen Qin,Xiao Gao-fei,Wang Ya-li,Qian Zhen,Ji Run-bi,Li Yun,Yang Jing. Scanning of c-kit gene mutations in acute myeloid leukemias using high-resolution melting analysis[J]. Chinese Journal of Hematology, 2011, 32(1): 21-24. DOI: 10.3760/cma.j.issn.0253-2727.2011.01.007 |
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| Authors: | Yao Dong-ming Qian Jun Lin Jiang Chen Qin Xiao Gao-fei Wang Ya-li Qian Zhen Ji Run-bi Li Yun Yang Jing |
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| Affiliation: | Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China. |
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| Abstract: | 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. |
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| Keywords: | High-resolution melting Translocation,genetic Leukemia,nonlymphocytic,acute Gene,c-kit DNA mutational analysis |
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