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。
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 repair gene polymorphisms affect repair capacity.Finally 25 related articles were selected and included in the analysis.RESULTS： XRCC1,XPD protein are key enzyme in base excision repair and nucleotide excision repair respectively.The polymorphisms in exon of those genes affect damage DNA repair capacity through altering the structure and function of its encoded proteins,leading to genomic instability and the genesis of leukemia.It is reported that XRCC1 Arg399Gln polymorphism is significantly associated with susceptibility to childhood ALL,individuals carrying 399Gln variant increased risk for childhood ALL（OR 2.2-2.4）,compared with the wild-type genotype（399Lys）.Individuals with AML carrying XPD 751Gln variant have shorter DFS and OS,and increased risk of therapy-related leukemia.CONCLUSION： XRCC1and XPD single nucleotide polymorphisms may be the basis of acute leukemia genetic susceptibility and prognostic heterogeneity.
出处
《中华肿瘤防治杂志》
CAS
2011年第3期237-240,共4页
Chinese Journal of Cancer Prevention and Treatment
基金
南京市医学科技发展项目(320.2430)
关键词
基因
多态性
单核苷酸
白血病
综述文献
genes
polymorphism
single nucleotide
leukemia
review literature
