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目的 探讨XRCC1基因多态与儿童急性白血病遗传易感性的关系。方法 采用病例对照设计,6 3名急性白血病患儿为病例组,6 6名非血液系统性疾病、非肿瘤疾病儿童为对照组,应用聚合酶链反应 限制性片段长度多态性技术(PCR- RFLP)检测XRCC1基因c.194、c.2 80和c.399位点的多态性。结果 具有至少一个XRCC1c .399Gln突变等位基因的个体急性白血病发病风险是无此突变等位基因个体的2 2 35倍(95 %CI 1 0 .38～4 . 812 ) ,在男性儿童中具有该突变等位基因的个体发病风险为野生型等位基因个体的3. 110倍(95 .%CI1 2. 35～7 .831)。Logistic回归分析未发现X线暴露与XRCC1基因多态存在交互作用。结论 携带XRCC1c .399Gln突变等位基因的儿童急性白血病发病风险增加,XRCC1基因多态在儿童急性白血病的发生过程中起一定作用。
Objective To investigate the relationship between genetic polymorphism of XRCC1 gene and genetic susceptibility to childhood acute leukemia. Methods Sixty-three children with acute leukemia were enrolled in the study. Sixty-six children with non-hematologic disease and non-neoplastic disease were selected as control group. PCR- RFLP) was used to detect the polymorphisms of c.194, c.280 and c.399 in XRCC1 gene. Results The risk of developing an individual acute leukemia with at least one XRCC1c .399 Gln mutant allele was 2235 times (95% CI 1038 to 4812) in individuals without this mutation allele, The risk of developing the mutant allele was 3.110 times higher than that of the wild type allele (95% CI1 2.35-7.731). There was no interaction between X-ray exposure and XRCC1 gene polymorphism by Logistic regression analysis. Conclusion The incidence of acute leukemia in children with XRCC1c .399Gln mutation allele is increased, and the polymorphism of XRCC1 gene plays a role in the pathogenesis of childhood acute leukemia.