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目的探讨CYP1A1基因和CYP2E1基因多态性与燃煤型砷中毒发病风险的关系。方法以130例燃煤型砷中毒患者为病例组,以140名健康居民为对照组,应用聚合酶链反应-限制性片段长度多态性(PCRRFLP)法检测CYP1A1 Msp I、CYP2E1 Dra I和CYP2E1 Pst I位点基因多态性,并进行基因联合作用分析。结果CYP1A1基因Msp I位点m1/m1(纯合野生型)基因型和m1/m2+m2/m2(杂合型+纯合突变型)基因型在病例组和对照组的分布频率分别为34.2%、65.8%和30.9%、69.1%;CYP2E1基因Pst I位点c1/c1(纯合野生型)基因型和c1/c2+c2/c2(杂合型+纯合突变型)基因型在病例组和对照组的分布频率分别为62.6%、37.4%和57.4%、42.6%;CYP2E1基因Dra I位点DD(纯合野生型)和DC+CC(杂合型+纯合突变型)基因型在病例组和对照组的分布频率分别为58.7%、41.3%和61.4%、42.6%;上述3个多态位点各基因型在两组间的分布差异无统计学意义(P=0.341、0.574、0.972)。未发现CYP1A1 Msp I、CYP2E1 Pst I和CYP2E1 Dra I多态位点与燃煤型砷中毒的发病风险存在统计学关联(P校正=0.433、0.219、0.832);上述多态位点各基因型之间未发现存在联合作用。结论CYP1A1和CYP2E1基因多态性与燃煤型砷中毒的发病风险无关。
Objective To investigate the relationship between CYP1A1 gene and CYP2E1 gene polymorphism and the risk of coal-borne arsenism. Methods 130 cases of coal-burning arsenism patients were selected as the case group and 140 healthy residents as the control group. The CYP1A1 Msp I, CYP2E1 Dra I and CYP2E1 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) Pst I locus gene polymorphism, and gene combination analysis. Results The frequencies of m1 / m1 (homozygous wild-type) genotypes and m1 / m2 + m2 / m2 (heterozygous + homozygous mutant) genotypes of CYP1A1 gene in case and control groups were 34.2 %, 65.8% and 30.9%, 69.1%, respectively. The genotypes of c1 / c1 (homozygous wild-type) and c1 / c2 + c2 / c2 (heterozygous + homozygous mutant) The distribution frequencies of DD (homozygous wild-type) and DC + CC (heterozygous + homozygous mutant) of CYP2E1 gene in Dra I site were 62.6%, 37.4% and 57.4%, respectively, The frequency of distribution in case group and control group were 58.7%, 41.3% and 61.4%, 42.6% respectively. There was no significant difference in the distribution of genotypes between the two groups (P = 0.341, 0.574 , 0.972). No significant association was found between the polymorphisms of CYP1A1 Msp I, CYP2E1 Pst I and CYP2E1 Dra I and the risk of coal-based arsenism (P = 0.433, 0.219, 0.832). The above genotypes There was no synergy between the two. Conclusion CYP1A1 and CYP2E1 gene polymorphisms are not associated with the risk of coal-fired arsenism.