X线交叉互补基因1多态性与铅中毒易感性

目的探讨X线交叉互补基因1（XRCC1）A194W和A399Q多态性与铅中毒易感性关系，寻找铅中毒易感性生物学标志。方法采用病例一对照研究，收集122例确诊铅中毒病人作为病例组，142例健康人群作为对照组。应用PCR-限制性片段长度多态性（PCRRFLP）技术检测2组人群基因型，分析不同基因型对铅中毒易感性的影响。结果XRCC1 A194W和A399Q的野生型、杂合突变型和纯合突变型在病例组和对照组分布频率差异均有统计学意义（P均〈0．05）；XRCC1 A194W的杂合突变型（CT）、纯合突变型（TT）和突变型（CT＋TT）分别增加铅中毒易感性达2．03，2．59和2．12倍。XRCC1 A399Q的杂合突变型（GA）和突变型（GA＋AA）分别减少铅中毒易感性达0．37和0．52倍；纯合突变型（AA）与铅中毒的易感性无关。结论XRCC1 A194W和A399Q基因多态性与铅中毒易感性有关，可考虑作为铅中毒的重要易感性生物学标志。

Relationship between polymorphisms of X - ray repair cross complementing group 1 and susceptibility to lead poisoning

Objective To investigate the relationships between polymorphisms of X-ray repair cross complementing group 1(XRCC1) A194W and A399Q and susceptibility to lead poisoning and to find the biomarkers of susceptibility to lead poising.Methods A case-control study was performed among 122 patients diagnosed with lead poisoning and 142 disease-free controls.The genotypes of participants in two groups were detected by PCR-restriction fragment length polymorphisms(PCR-RFLP) methods and the effects of different genotypes on susceptibility to lead poisoning were investigated.Results The distributions of the mild genotype,heterozygous mutation genotype and homozygous mutation genotype of XRCC1 A194W and A399Q polymorphism between lead poisoning group and control group were significantly different(P<0.05).In XRCC1 A194W polymorphism,heterozygous mutation genotype (CT),homozygous mutation genotype(TT) and mutation genotype(CT+TT) could increase 2.03-fold,2.59-fold and 2.12-fold risk of lead poisoning compared with mild genotype(CC),respectively.In XRCC1 A399Q polymorphism,there were 0.37-fold and 0.52-fold decreased risk of lead poisoning in heterozygous mutation genotype(GA) and mutation genotype(GA+AA) compared with wild genotype(GG),respectively.The homozygous mutation genotype(AA) might not relate to risk of lead poisoning.Conclusion The polymorphisms of XRCC1 A194W and A399Q contribute to susceptibility to lead poisoning,which may be suggested as important biomarkers of susceptibility to lead poisoning.