中文摘要：

目的探讨DNA损伤修复基因X线修复交叉互补基因1（XRCC1）多态性在1,3-丁二烯致外周血淋巴细胞染色体损伤易感性中的作用。方法采用胞质分裂阻滞微核试验方法（CB-MN）评价166名1,3-丁二烯接触工人和41名正常人染色体损伤水平,应用聚合酶链反应-限制性片段多态性技术（PCR-RFLP）对接触工人第19染色体上的XRCC1第6外显子194密码子,第9外显子280密码子和第10外显子399密码子进行多态性检测。结果接触组和对照组的微核发生率分别为（3.39±2.42）‰和（1.48±1.26）‰,差异有显著性（P〈0.01）。高剂量接触组工人比低剂量接触组工人更容易发生染色体损伤（FR=1.30,95%CI1.14～1.53,P〈0.05）。XRCC1194突变基因携带个体的微核发生率比野生纯合型个体显著增高（FR=1.13,95%CI1.07～1.27,P〈0.05）;XRCC1280突变纯合型个体的微核率较野生纯合型显著增加（FR=1.67,95%CI1.10～2.42,P〈0.05）;XRCC1399杂合型个体以及杂合型和突变纯合型个体的微核率均显著增加（FR=1.26,95%CI1.03～1.53;FR=1.24,95%CI1.03～1.49,P〈0.05）。CAG/TGG双体型个体微核率显著降低,结论 XRCC1194、280、399突变位点携带工人染色体损伤风险增高。

英文摘要：

Objective To explore the relationship between genetic polymorphism of XRCC1 194,280,399 and susceptibility of chromosomal damage induced by 1,3-butadiene（BD）.Methods 138 workers occupationally exposed to BD and 41 normal individuals were involved.Cytokinesis-block micronucleus（CB-MN） assay was used to detect chromosome damage in peripheral lymphocyte.PCR-RFLP technique was applied to detect polymorphisms in XRCC1 194,280 and 399.Results The MN frequencies（3.39 ± 2.42）‰ of workers exposed to BD were more higher than those of the non-exposed groups（1.48 ± 1.26）‰（P 0.01）.Workers receiving mere exposures had higher MN values than those of lower-exposed workers：frequency ratios（FR） = 1.30（95% CI 1.14-1.53,P 0.05）.Workers with XRCC1 194 Arg /Trp genotype had more susceptibility for chromosome damage,FR = 1.13（95% CI 1.07-1.27）.Workers with XRCC1 280 Arg/His genotype had more susceptibility for chromosome damage,FR = 1.67（95% CI 1.10-2.42）.XRCC1 399 Arg /Gln and combined group of Arg /Gln and Gln /Gln genotype carrier had higher MN frequency,FR = 1.26（95% CI 1.03-1.53） and 1.24（95% CI 1.03-1.49） respectively.The haplotypes CAG /TGG could associate with the decreased frequencies of total micronucleus（P 0.05）.Conclusion Genotype of XRCC1 could associated with the chromosome damage induced by BD.