GSTO1-1基因多态性与地方性砷中毒易感性的关系研究  

Association of GSTO1-1 genetic polymorphisms with susceptibility to arsenism

作　　者：侯文胜 张丽芳 裴秋玲[2] 

机构地区：[1]中国石油集团石油职业卫生技术服务中心,河北廊坊065000 [2]山西医科大学公共卫生学院毒理学教研室

出　　处：《环境与健康杂志》2013年第2期105-109,共5页Journal of Environment and Health

基　　金：山西省自然科学基金(20051094);山西省回国人员基金(200527);山西省科技攻关项目(2006031087-11)

摘　　要：目的探讨砷代谢相关酶谷胱甘肽S转移酶Omega 1-1(GSTO1-1)基因第4外显子多态性与地方性砷中毒患病风险的关系。方法于2006年,采用聚合酶链反应-单链构象多态性(PCR-SSCP)技术对79名地方性砷中毒患者和110名正常人群外周血中GSTO1-1基因第4外显子的突变情况进行初筛,并进一步对异常带型进行直接DNA测序,以确定突变位点及类型,对多态性进行单因素分析和多因素非条件Logistic回归分析。结果病例组131位密码子新的沉默突变131Ile(ATC)的携带率(2.5%)高于对照组(1.8%);病例组140位密码子突变140Asp的携带率(38.0%)高于对照组(32.7%);病例组155位密码子突变155Glu/Val的携带率(3.8%)高于对照组(2.7%),但差异均无统计学意义。在多因素非条件Logistic回归分析中调整年龄、性别等因素后,GSTO1-1基因多态性与地方性砷中毒发病仍无统计学意义。结论 GSTO1-1基因第4外显子上密码子131、140和155位点多态性与地方性砷中毒易感性无显著关系,出现这种情况的原因可能与分析的样本量较小、有关的多态性位点在GSTO1-1基因其他的外显子或非编码区上有关。Objective To explore the associateion between the genetic polymorphism of glutathione S-transferase Omega 1-1 （GSTO1-l） and susceptibility to the arsenism. Methods Polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） technology was performed to detect mutations of GSTO1-1 gene exon 4 in genome DNA of 79 cases and 110 controls in 2006. PCR products with abnormal band forms were further sequenced to find the types and sites of mutation. Results Three mutations in Exon 4 of GSTO1-1 gene were found. Besides the common mutation in 140Asp,38.0% in case group and 32.7% in control group,respectively,two relatively rare mutations were also found, one was 13111e （ATC）, 2.5% in case group and 1.8% in control group,respectively and another was 155 Glu/Val 3.8% in case group and 2.7% in control group, respectively. Although the rates of three mutations in case group were higher than those in control, the difference had no statistical significance. Conclusion No significant association is observed between the genetic polymorphisms of GSTO1-1 codon 131 ,codon 140,eodon155 and the susceptibility to the arsenism,whieh may be associated with limited sample size and gene polvmorphisms in other exons and non-coding region.

关 键 词：地方性砷中毒 谷胱甘肽S转移酶Omega 1-1 基因多态性 聚合酶链反应-单链构象多态性 

分 类 号：R181.3[医药卫生—流行病学]