摘要
目的探讨砷代谢相关酶三价砷甲基转移酶[arsenic（＋3oxidationstate）methyltransferase，AS3MT]单核苷酸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限制性酶切片段多态性一单链构象多态性（PCR—RFLP—SSCP）技术对79名砷中毒患者和110名正常健康人群外周血中AS3MT基因第8内含子和第9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AS3MT基因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AS3MT基因第8内含子上9149位碱基（AS3MT_9149）A—C突变的发生率（19．O％，15／79）低于对照组（23．6％，26／110），病例组AS3MT基因第9外显子上287位密码子（AS3MT-287）ATG—AC／TG突变的发生率（10．1％，8／79）低于对照组（11．8％，13／110），但差异均无统计学意义（P均〉0．05）。在多因素分析中调整年龄、性别等因素后，AS3MT基因多态性与地方性砷中毒发病仍无统计学意义[AS3MT-9149：比值比（OR）=0．59，95％可信区间（C／）为O．26—1．31，P=0．195；AS3Mn287：OR=0．85，95％C／为0．32—2．30，P=0．751]。结论AS3MT-9149和AS3MT-287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，或者是有关的多态性位点在AS3MT基因其他的外显子或非编码区上有关。
Objective To investigate the association between arsenic（＋3 oxidation state） methyltransferase （AS3MT） genetic polymorphism and susceptibility to endemic arsenism. Methods Polymerase chain reaction- restriction fragment length polymorphism-single strand conformation polymorphism（PCR-RFLP-SSCP） technology was performed to detect mutations of AS3MT gene intron 8 and exon 9 in genome DNA of the 79 cases and 110 controls. PCR products with abnormal band forms were further sequenced to find the types and sites of mutation. Chi-square test and multivariate Logistic analyses were conducted. Results The incidence of the 9149 base mutation （A→ C） in AS3MT gene intron 8（AS3MT-9149） in case group（19.0%, 15/79） was lower than that in control group （ 23.6%, 26/110）. The incidence of the codon 287 mutation （ATG→AT/CG） in AS3MT gene exon 9 （ AS3MT-287 ） in case group（10.1%, 8/79） was lower than that in control group （11.8%, 13/110）. However, statistical analysis indicated no significant difference in both mutations between two groups [ AS3MT-9149： odds ratio （OR） = 0.59, 95% confidence interval（C/） ： 0.26 - 1.31, P = 0.195 ; AS3MT-287 ： OR = 0.85, 95% CI： 0.32 - 2.30, P= 0.751 ]. Conclusions There are no significant association between the genetic polymorphisms of AS3MT-9149, AS3MT- 287 and the susceptibility to endemic arsenism. Similarly, due to small sample amount, we can not exclude the possibility that these gene polymorphisms are related to susceptibility to endemic arsenism.
出处
《中华地方病学杂志》
CAS
CSCD
北大核心
2013年第1期33-37,共5页
Chinese Journal of Endemiology
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）
关键词
砷中毒
三价砷甲基转移酶
聚合酶链反应
基因
多态性
限制性片段长度
Arsenic poisoning
Arsenic （＋3 oxidation state ） methyltransferase
Polymerase chainreaction
Genes
Polymorphism, restriction fragment length
