期刊文献+

RAD51-G135C和XRCC3-C241T单核苷酸多态性与急性髓系白血病发病相关性研究 被引量:1

Relationship between RAD51-G135C and XRCC3-C241T Single Nucleotide Polymorphisms and Onset of Acute Myeloid Leukemia
暂未订购
导出
摘要 目的:探讨RAD51-G135C和XRCC3-C241T单核苷酸多态性与急性髓系白血病(AML)发病的相关性。方法:研究分为两组:AML患者组(545例AML患者的外周血样本)和对照组(1 034名与患者无血缘关系的正常人的外周血样本),分别抽提2组基因组DNA,通过Taq Man探针实时荧光定量PCR技术分析RAD51-G135C和XRCC3-C241T基因多态性,并分析两者多态性与急性髓系白血病发病相关性。结果:与对照组相比,RAD51-G135C纯合变异型(CC)可显著增加AML患者的发病风险(OR=3.07),而RAD51-G135C杂合变异型(GC)与AML发病无统计学相关性。XRCC3-C241T纯合变异型(TT)与AML发病尚无统计学相关性,而XRCC3-C241T杂合变异型(CT)却可增加AML患者的发病风险(OR=0.66)。结论:RAD51-G135C纯合变异型和XRCC3-C241T杂合变异型显著增高AML的发病风险,对AML的发病更有预测价值。 Objective:To investigate the relationship between RAD51-G135C and XRCC3-C241T single nucleotide polymorphisms and onset of acute myeloid leukemia (AML). Methods:The study was performed in 2 groups: AML patient group and normal person group as control group. Genomic DNA was extracted from peripheral blood cells of 545 AML patients and 1 034 normal persons. G-enotypes of RAD51-GI35C and XRCC3-C241T were analyzed by TaqMan probe technology and the ralatienship between RAD51-G135C/XRCC3-C241 T polymorphisms and onset of acute myeloid leukemia was investigated. Results:Compared with the control group, RAD51-G135C homozygous mutant (CC) could significantly increase the risk of AML patients (OR = 3. 07 ), and there was no statistical relationship between heterozygous mutant (GC) of RAD51-G135C and onset of AML. There was no statistical relationship between homozygous mutant (TT) of XRCC3-C241T and onset of AML, and the XRCC3-C241T heterozygous mutation type (CT) increased the risk of AML patients (OR = 0.66 ). Conclusion :RAD51-G135C homozygous mutant and XRCC3- C241T heterozygous mutation significantly increase the risk of the AML onset, which can provide more predictive value for incidence of AML.
出处 《中国实验血液学杂志》 CAS CSCD 北大核心 2015年第3期605-611,共7页 Journal of Experimental Hematology
基金 国家自然青年科学基金资助项目(81200361)
关键词 急性髓系白血病 RAD51基因 XRCC3基因 单核苷酸多态性 同源重组修复 acute myeloid leukemia RAD51 gene XRCC3 gene single nucleotide polymorphism homologous recombination repair
  • 相关文献

参考文献17

  • 1王黎,沈志祥.老年急性髓系白血病的特点和治疗策略[J].中华血液学杂志,2013,34(1):76-79. 被引量:39
  • 2陈竺.全国第三次死因回顾抽样调查报告.北京:中国协和医科大学出版社,2008.1417.
  • 3Bolufer P,Collado M,Barragan E,et al.The potential effect of gender in combination with common genetic polymorphisms of drug-metabolizing enzymes on the risk of developing acute leukemia.Haematologica,2007;92(3):308-314.
  • 4de Boer JG.Polymorphisms in DNA repair and environmental interactions.Mutat Res,2002;509(1-2):201-210.
  • 5Jackson SP.Sensing and repairing DNA double-strand breaks.Carcinogenesis,2002;23(5):687-696.
  • 6Kurumizaka H,Enomoto R,Nakada M,et al.Region and amino acid residues required for Rad51C binding in the human Xrcc3 protein.Nucleic Acids Res,2003;31(14):4041-4050.
  • 7Kawabata M,Kawabata T,Nishibori M.Role of rec A/RAD51 family proteins in mammals.Acta Med Okayama,2005;59(1):1-9.
  • 8Vardiman JW,Harris NL,Brunning RD.The World Health Organization(WHO)classification of the myeloid neoplasms.Blood,2002;100(7):2292-2302.
  • 9Pedersen-Bjergaard J,Andersen M,Christiansen D,et al.Genetic pathways in therapy-related myelodysplasia and myeloid leukemia.Blood,2002;99(6):1909-1912.
  • 10Seedhouse C,Bainton R,Lewis M,et al.The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia.Blood,2002;100(10):3761-3766.

二级参考文献60

  • 1Nucifora G, Birn DJ, Erickson P, et al. Detection of DNA rear- rangements in the AML1 and ETO loci and of an AML1/ETO fusion mRNA in patients with t ( 8 ; 21 ) acute myeloid leukemia. Blood, 1993; 81(4) : 883 -888.
  • 2Meyers S, Lenny N, Hiebert SW. The t(8 ;21 ) fusion protein interferes with AML-1B-dependent transcriptional activation. Mol Cell Biol, 1995; 15(4):1974-1982.
  • 3Alcalay M, Meani N, Gelmetti V, et al. Acute myeloid leukemia fusion proteins deregulate genes involved in stem cell maintenance and DNA repair. J Clin Invest, 2003 ; 112 ( 11 ) : 1751 - 1761.
  • 4Rhoades KL, Hetherington CJ, Rowley JD, et al. Synergistic up-regulation of the myeloid-specific promoter for the maerophage colonystimulating factor receptor by AML1 and the t(8;21) fusion protein may contribute to leukemogenesis. Proe Natl Acad Sci USA, 1996; 93(21 ) :11895 - 11900.
  • 5Uchida H, Zhang J, Nimer SD. AML1A and AML1B can transactirate the human IL-3 promoter. J Immunol, 1997; 158 (5) :2251 - 2258.
  • 6Follows GA, Tagoh H, Lefevre P, et al. Epigenetic consequences of AML1-ETO action at the human c-FMS locus. EMBO J, 2003; 22 ( 11 ) :2798 - 2809.
  • 7Heintzman ND, Stuart RK, Hon G, et al. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat Genet, 2007; 39(3) : 311 -318.
  • 8Johnson WE, Li W, Meyer CA, et al. Model-based analysis of tiling-arrays for ChiP-chip. Proc Natl Acad Sci USA, 2006 ; 103 (33) : 12457 - 12462.
  • 9Asou H, Tashiro S, Hamamoto K, et al. Establishment of a human acute myeloid leukemia cell line ( Kasumi-1 ) with 8 ;21 chromosome translocation. Blood, 1991 ; 77(9) :2031 -2036.
  • 10Ji X, Li W, Song J, et al, CEAS: eis-regulatory element annotation system. Nucleic Acids Res, 2006; 34 (Web Server issue) :W551 - 554.

共引文献78

同被引文献1

引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部