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| 急性髓系白血病NPM1基因突变检测方法的研究 | |
| 引用本文： | Li ZP,Zhang X,Zhao XM,Li QG,Chen YM,Lu QY. 急性髓系白血病NPM1基因突变检测方法的研究[J]. 中国实验血液学杂志, 2011, 19(4): 999-1004 |
| 作者姓名： | Li ZP Zhang X Zhao XM Li QG Chen YM Lu QY |
| 作者单位： | 1. 厦门大学生命科学学院,福建,厦门,361005;厦门大学附属中山医院血液科,福建,厦门,361004 2. 厦门大学生命科学学院,福建,厦门,361005 3. 厦门大学附属中山医院血液科,福建,厦门,361004 |
| 摘 要： | 本研究旨在建立检测急性髓系细胞白血病(AML)患者NPM1基因突变的方法。针对NPM1基因突变集中区域设计引物/探针,建立高分辨熔解曲线方法(HRM)和等位基因特异PCR方法(AS-PCR),通过89份AML标本进行了临床评估,并采用毛细管电泳法(CE)和测序法作为对照进行了验证。结果表明,通过上述4种方法共检出阳性标本17例(19.1%),其中A型突变15例,B型和Nm型突变各1例。上述方法中HRM法检测全面,灵敏度为5%,而AS-PCR法有一定的漏检,但灵敏度高达0.01%。结论:考虑到操作的难易程度,同时也结合临床样品的检测情况,HRM在临床上可法用于NPM1突变筛查,而AS-PCR法可用于后续的微小残留病定量检测。 |
| 关 键 词： | 急性髓性细胞白血病 NPM1基因 毛细管电泳 高分辨熔解曲线法 等位基因特异PCR |
Evaluation of methods for detection of NPM1 gene mutations in acute myeloid leukemia |
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| Li Zhi-Peng,Zhang Xuan,Zhao Xiao-Ming,Li Qing-Ge,Chen Ya-Mei,Lu Quan-Yi. Evaluation of methods for detection of NPM1 gene mutations in acute myeloid leukemia[J]. Journal of experimental hematology, 2011, 19(4): 999-1004 | |
| Authors: | Li Zhi-Peng Zhang Xuan Zhao Xiao-Ming Li Qing-Ge Chen Ya-Mei Lu Quan-Yi |
| Affiliation: | LI Zhi-Peng1,2,ZHANG Xuan1,ZHAO Xiao-Ming1,LI Qing-Ge1,CHEN Ya-Mei2,LU Quan-Yi21School of Life Science,Xiamen University,Xiamen 361005,Fujian Province,China,2Department of Hematology,Xiamen University Zhongshan Hospital,Xiamen 361004 |
| Abstract: | The purpose of this study was to establish real-time based methods for detection of NPM1 gene mutation in acute myeloid leukemia(AML).Primers/probes were designed according to the clustered region of NPM1 mutations on exon 12.Two real-time PCR assays,including high resolution melting curve(HRM) and allele-specific PCR(AS-PCR),were developed and clinically evaluated with 89 AML samples,which were parallelly detected by capillary electrophoresis(CE) and sequencing.The results showed that a total of 17 mutatio... |
| Keywords: | acute myeloid leukemia NPM1 gene capillary electrophoresis high resolution melting curve allele-specific PCR |
| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ | |