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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-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(PCR-RFLP)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。
Objective To investigate the relationship between XRCC1 A194W and A399Q polymorphisms and the susceptibility to lead poisoning and to find the biomarkers of susceptibility to lead poisoning. Methods A case-control study was conducted in which 122 cases of confirmed lead poisoning were collected as case group and 142 healthy people as control group. The genotypes of two groups of people were detected by PCR-RFLP and the effects of different genotypes on susceptibility to lead poisoning were analyzed. Results The frequency distribution of wild type, heterozygous mutant and homozygous mutant of XRCC1 A194W and A399Q in case group and control group were statistically significant (all P <0.05). The heterozygous mutation (CT) of XRCC1 A194W, The homozygous mutant (TT) and mutant (CT + TT) increased susceptibility to lead poisoning by 2.03, 2.59 and 2.12 fold, respectively. The heterozygous mutant (GA) and mutant (GA + AA) of X991 A399Q reduced the susceptibility to lead poisoning by 0.37 and 0.52 times, respectively. The homozygous mutant (AA) had no correlation with susceptibility to lead poisoning. Conclusion The polymorphisms of XRCC1 A194W and A399Q are related to susceptibility to lead poisoning and may be considered as important susceptibility biomarkers for lead poisoning.