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| 急性髓系白血病中异柠檬酸脱氢酶基因突变的研究 | |
| 引用本文： | Zhou XJ,Zhang SJ,Qiao C,Shen YF,Li JY. 急性髓系白血病中异柠檬酸脱氢酶基因突变的研究[J]. 中国实验血液学杂志, 2011, 19(4): 902-906 |
| 作者姓名： | Zhou XJ Zhang SJ Qiao C Shen YF Li JY |
| 作者单位： | 1. 南京医科大学附属无锡人民医院血液科,江苏,无锡,214023;南京医科大学第一附属医院,江苏省人民医院血液科,江苏,南京,210029 2. 南京医科大学第一附属医院,江苏省人民医院血液科,江苏,南京,210029 3. 南京医科大学附属无锡人民医院血液科,江苏,无锡,214023 |
| 基金项目： | 江苏省卫生厅医学科研课题,南京市医学科技发展项目 |
| 摘 要： | 本研究探讨急性髓系白血病(acute myeloid leukemia,AML)患者中异柠檬酸脱氢酶基因(IDH1、IDH2基因)点突变及其临床意义。选取90例初发AML患者,以基因组DNA为模板,分别扩增IDH1、IDH2基因的4号外显子,PCR产物通过直接测序法检测IDH突变情况。结果表明,有IDH1基因突变的患者为4例,有IDH2基因突变的患者为7例,突变率分别为4.4%、7.8%,无患者同时存在有2种突变,总突变率为12.2%。在有突变的患者中正常核型所占比例为72.7%,明显高于核型异常患者。存在突变的患者的缓解率为72.7%,较无突变患者高,但两者无统计学差异。有IDH基因突变的患者在缓解后突变消失,而复发后在同样位点再次出现突变。结论:IDH基因突变主要见于正常核型的患者中,尤其是合并NPM1基因突变患者,并与复发相关。IDH基因突变可能成为AML尤其是正常核型AML治疗和预后的指标。 |
| 关 键 词： | 急性髓系白血病 异柠檬酸脱氢酶 异柠檬酸脱氢酶基因 |
Isocitrate dehydrogenase gene mutations in acute myeloid leukemia |
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| Zhou Xiao-Juan,Zhang Su-Jiang,Qiao Chun,Shen Yun-Feng,Li Jian-Yong. Isocitrate dehydrogenase gene mutations in acute myeloid leukemia[J]. Journal of experimental hematology, 2011, 19(4): 902-906 | |
| Authors: | Zhou Xiao-Juan Zhang Su-Jiang Qiao Chun Shen Yun-Feng Li Jian-Yong |
| Affiliation: | ZHOU Xiao-Juan1,2,ZHANG Su-Jiang2,QIAO Chun2,SHEN Yun-Feng1,LI Jian-Yong21Department of Hematology,Wuxi People Hospital,Nanjing Medical University,Wuxi,214023,Jiangsu Province,China,2Department of Hematology,Nanjing Medical University First Affiliated Hospital,Jiangsu Provincial People Hospital,Nanjing 210029 |
| Abstract: | The purpose of this study was to identify point mutation of the isocitrate dehydrogenase gene(IDH1 and IDH2) in patients with acute myeloid leukemia(AML) and its clinical significance.90 de novo AML patients were selected for this study,the genomic DNA was served as template,the exon4 of IDH1 and IDH2 were amplified respectively.The IDH mutation was detected by using directly soguencing method for PCR product.The results indicated that among 90 de novo AML patients,4 patients(4.4%) showed the IDH1 gene muta... |
| Keywords: | acute myeloid leukemia isocitrate dehydrogenase isocitrate dehydrogenase gene |
| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ | |