| 修复基因XRCC1和XPD单核苷酸多态与急性白血病关联性的研究现状 |
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| 引用本文： | 汤芳芳,欧阳建. 修复基因XRCC1和XPD单核苷酸多态与急性白血病关联性的研究现状[J]. 中华肿瘤防治杂志, 2011, 18(3): 237-240 |
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| 作者姓名： | 汤芳芳 欧阳建 |
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| 作者单位： | 南京大学医学院附属鼓楼医院血液科,江苏,南京,210008 |
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| 基金项目： | 南京市医学科技发展项目 |
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| 摘 要： | 目的:总结国内外关于X线修复交叉互补基因(XRCC1)和着色性干皮病基因(XPD)单核苷酸多态与急性白血病关联性研究现状。方法:以"DNA修复、XRCC1、XPD、基因多态性和白血病"为关键词检索1991-12-2010-05 CNKI和Pubmed数据库。纳入标准:1)XRCC1单核苷酸多态性与急性白血病的相关性;2)XPD单核苷酸多态性与急性白血病的相关性;3)DNA修复基因多态性对修复能力的影响。根据纳入标准分析25篇文献。结果:XRCC1和XPD蛋白分别是碱基切除修复和核苷酸切除修复中关键酶,编码区多态性通过改变其编码蛋白的结构或功能,影响DNA损伤的修复效率,导致基因组不稳定和白血病的发生发展。研究发现,XRCC1 Arg399Gln多态与儿童急性淋巴细胞白血病(ALL)易感性明显相关,399Gln突变基因型儿童ALL发病风险是399Lys野生型的2.2~2.4倍;XPD751Gln突变降低急性髓系白血病(AML)患者无病生存期(DFS)及生存率(OS),且增加治疗相关白血病危险性。结论:XRCC1和XPD单核苷酸多态性可能是急性白血病遗传易感性及预后异质性的重要基础。
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| 关 键 词： | 基因 多态性,单核苷酸 白血病 综述文献 |
Relavent research advance on XRCC1 and XPD single nucleotide polymorphism and acute leukemia |
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| TANG Fang-fang,OUYANG Jian. Relavent research advance on XRCC1 and XPD single nucleotide polymorphism and acute leukemia[J]. Chinese Journal of Cancer Prevention and Treatment, 2011, 18(3): 237-240 |
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| Authors: | TANG Fang-fang OUYANG Jian |
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| Affiliation: | TANG Fang-fang,OUYANG Jian Department of Hematology,Affiliated Drum Tower Hospital,Medical College of Nanjing University,Nanjing 210008,P.R.China |
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| Abstract: | OBJECTIVE: To summarize the research status of relevance between excision repair gene XRCC1,XPD single nucleotide polymorphisms and acute leukemia.METHODS: CNKI and Pubmed database were used to search the literature published from 1991-12 to 2010-05 according to the keywords:DNA repair,XRCC1,XPD,gene polymorphisms and leukemia.Inclusion criteria: 1)correlation between XRCC1 single nucleotide polymorphism and acute leukemia;2) correlation between XPD single nucleotide polymorphism and acute leukemia;3)DNA re... |
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| Keywords: | genes polymorphism single nucleotide leukemia review literature |
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