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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 current status of the association between single nucleotide polymorphisms of XRCC1 and XPD and acute leukemia at home and abroad. METHODS: The databases of CNKI and Pubmed 1991-12-2010-05 were searched with the keywords “DNA repair, XRCC1, XPD, gene polymorphism and leukemia”. Inclusion criteria: 1) the association of XRCC1 SNPs with acute leukemia; 2) the association of XPD SNPs with acute leukemia; and 3) the effect of DNA repair gene polymorphisms on repair capacity . According to inclusion criteria analysis of 25 articles. Results: XRCC1 and XPD proteins were the key enzymes in base excision repair and nucleotide excision repair, respectively. The coding region polymorphisms affected the repair efficiency of DNA damage by changing the structure or function of the encoded proteins, leading to genomic instability and leukemia The occurrence and development. The study found that XRCC1 Arg399Gln polymorphism was significantly associated with the susceptibility to childhood acute lymphoblastic leukemia (ALL). The risk of ALL in 399Gln mutant children was 2.2-2.4 times of that of wild type 399Lys. The XPD751Gln mutation decreased the risk of acute myeloid leukemia (AML) Disease-free survival (DFS) and survival (OS), and increase the risk of treatment-related leukemia. Conclusion: Single nucleotide polymorphisms of XRCC1 and XPD may be the important basis of genetic susceptibility and prognosis heterogeneity of acute leukemia.