PNP基因多态性与地方性砷中毒易感性的关系研究  

The correlation between PNP genetic polymorphisms and the susceptibility to endemic arsenic poisoning

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,河北省廊坊市065000 [2]山西医科大学公共卫生学院毒理学教研室

出　　处：《河北医药》2013年第17期2565-2568,共4页Hebei Medical Journal

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

摘　　要：目的探讨砷代谢相关酶嘌呤核苷磷酸化酶(PNP)单核苷酸第2外显子多态性与地方性砷中毒患病风险的关系。方法采用聚合酶链反应一单链构象多态性(PCR-SSCP)技术对79名地方性砷中毒患者和110名正常人群PNP基因第2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15位密码子GAA→AAA突变、51位密码子GGT→C/AGT突变和51位密码子GGT→AGT突变的发生率(11.4%)低于对照组(19.1%);病例组20位密码子CAC→CAT突变的发生率(10.1%)低于对照组(17.3%);病例组57位密码子CCC→CCT突变的发生率(22.8%)低于对照组(38.2%),但五种突变差异均无统计学意义(P>0.05)。在多因素分析中调整年龄、性别等因素后,PNP基因多态性与地方性砷中毒发病仍无统计学意义,与单因素分析的结果相同。结论虽然病例组PNP基因第2外显子上的多态性发生率低于对照组,但是这种差异没有统计学意义,出现这种情况的原因可能与分析的样本量较小,或者是有关的多态性位点在PNP基因其他的外显子或非编码区上有关。Objetc ive To investigate the correlation between genetic polymorphism of purine nucleoside phosphorylase （ PNP）and susceptibility to endemic arsenic poisoning .Methods Polymerase chain reaction-single strand conformation polymorphism （PCR S-SCP ） technology was used to detect the mutations of PNP gene exon 2 in 79 patients with endemic arsenic poisoning （case group） and 110 healthy subjects （control group）,then the PCR products with abnormal band forms were further sequenced in order to find the types and sites of mutation . Chi-square test and multivariate logistic analysis were performed to analyze PNP genetic polymorphisms .Results Four mutations were found in PNP gene exon 2,two of them had been reported ,which were CAC→CAT at codon 20 （10.1%and 17.3% in case group and control group,respectively） and CCC→CCT at codon 57 （22.8% and 38.2%in case group and control group ,respectively）.Another two mutations,GAA→AAA at codon 15 and GGT→C/AGT at codon 51,were found in this study ,the incidence of the two mutations was 11.4%in case group and 19.1% in control group, respectively.However there were no significant differences among the five kinds of mutations （ P 〉0.05）.Conclusion Although the incidence of gene polymorphisms in PNP in case group is lower than that in control group ,the difference is not significant ,and it maybe the cause that sample size is less , and the sites of gene polymorphisms are located in the other exon or noncoding region .

关 键 词：地方性砷中毒 嘌呤核苷磷酸化酶 聚合酶链反应-单链构象多态性 基因测序 

分 类 号：R599.4[医药卫生—内科学]