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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。
Objective To investigate the role of XRCC1 polymorphisms in DNA damage repair gene in the susceptibility of peripheral blood lymphocytes to chromosome damage induced by 1,3-butadiene. Methods Cytokinesis-block micronucleus test (CB-MN) was used to evaluate the chromosomal damage in 166 1,3-butadiene-exposed workers and 41 normal controls. The polymerase chain reaction-restriction fragment polymorphism (PCR-RFLP) was used to detect the polymorphism at codon 194, codon 9, codon 280 and exon 10 in XRCC1 on chromosome 19 of contact workers. Results The incidence of micronuclei in the contact group and the control group were (3.39 ± 2.42) ‰ and (1.48 ± 1.26) ‰, respectively, with significant difference (P <0.01). Workers in the high-dose exposure group were more likely to have chromosomal damage than those in the low-dose exposure group (FR = 1.30, 95% CI, 1.14 to 1.53, P <0.05). The incidence of micronuclei in individuals with XRCC1194 mutation was significantly higher than that in wild homozygotes (FR = 1.13, 95% CI 1.07 to 1.27, P <0.05). The frequency of micronuclei in XRCC1280 mutant homozygous individuals was significantly higher than that in wild homozygotes (FR = 1.67, 95% CI 1.10-2.42, P <0.05). The micronucleus rate of XRCC1399 heterozygous individuals and heterozygous and mutant homozygous individuals were significantly increased (FR = 1.26, 95% CI 1.03-1.53; FR = 1.24, 95% CI 1.03-1.49, P <0.05). CAG / TGG biphasic individuals micronucleus rate was significantly reduced, Conclusion XRCC1194,280,399 mutation site carrying workers increased risk of chromosomal damage.