中文摘要：

目的 探讨细胞色素P450 1A1和2D6基因多态性与慢性苯中毒易感性的关系.方法 采用病例-对照研究,选择152名苯中毒工人为病例组,152名接触苯而无中毒表现的工人为对照组.采用限制性片段聚合酶链反应（PCR-RFLP）技术检测CYP1A1基因3＇端非编码区MspⅠ和CYP2D6第1外显子c.188位点、g.212位点多态性.结果 携带CYP1A1 MspⅠT/T基因型的个体发生苯中毒的危险性是携带有CYP1A1 Msp Ⅰ T/C或C/C基因型的个体的1.32倍（95%CI：1.05～1.65,P=0.02）;在不吸烟的人群中,携带CYP1A1 MspⅠ T/T基因型的个体发生苯中毒的风险性是携带T/C或C/C基因型的个体的1.56倍（95%CI：1.15～2.12,P=0.003）;携带有CYP2D6 c.188 C/C或C/T基因型个体发生苯中毒的危险性是携带有CYP2D6 c.188 T/T基因型的个体的1.23倍（95%CI：1.05～1.42,P=0.01）,在不吸烟的人群中,携带CYP2D6 c.188 C/C或C/T基因型个体发生苯中毒的危险性是携带有CYP2D6 c.188 T/T基因型的个体的1.23倍（95%CI：1.04～1.47,P=0.01）.未发现研究对象的CYP2D6g.212位点存在多态性.结论 携带CYP1A1 Msp ⅠT/T基因型、CYP2D6 c.188 C/C和C/T基因型个体对苯中毒可能易感.

英文摘要：

Objective To explore the relationship between genetic polymorphisms of CYP-IAI and CYP2D6 and risks of chronic benzene poisoning（ BP）. Methods A case control study was conducted. 152 BP patients and 152 workers occupationally exposed to benzene without poisoning manifestations were involved. Polymerase chain reaction followed by restriction fragment length polymorphism（PCR-RFLP） technology was used for detecting the single nucleotide polymorphisms（SNPs）of Msp 1 in the non-coding region of CYP-IAI gene and c. 188, g. 212 position in the first extron of CYP2D6 gene. Results The individuals with CYPIA 1 Msp [ T/T genotype had a 1.32 times（95% CI：I .05 - 1.65, P = 0.02） increased risk of BP compared with those carr）, ing T/C and C/C genotypes.In no-smoking population, there was a 1.56 times（95% CI： 1.15 - 2.12, P = 0.003）increased risk of BP for subjects carrying CYPIAI Msp [ T/T genotype compared with those carrying T/C and C/C genotypes.The individuals carrying CYP2D6c. 188 C/C or C/T genotype had a 1.23 times（95% CI ： 1.05 - 1.42, P = 0.01 ） increased risk compared with those carrying T/T genotypes. In no-smoking population, there was a 1.23 times（95% CI： 1.04 - 1.47, P = 0.01 ）increased risk of BP for subjects carrying CYP2D6c. 188 C/C or C/T genotypes compared with those carrying T/T genotype .The single nucleotide polymorphism of g. 212 position in the first extron of CYP2D6 gene had not been validated. Conclusion The individuals with CYP2D6 c. 188 C/C, CYP2D6 c. 188 C/T and CYPIAI Msp [ T/T genotypes tend to be more susceptible to benzene toxicity.