广东省氡辐射地区人群h OGG1基因5'侧翼区多态性单体型分析  

Analysis on polymorphism haplotypes of 5'-flanking region of the h OGG1 gene in population of radon radiation area in Guangdong Province

作　　者：陈慧峰[1] 张金鑫 闫雪华[1] 赵雷[1] 黎丽春[1] 邹剑明[1] CHEN Huifeng;ZHANG Jinxin;YAN Xuehua;ZHAO Lei;LI Lichun;ZOU Jianming(Guangdong Province Hospital for Occupational Disease Prevention and Treatmen;Guangdong Provincial Key Laboratory of Occupational Disease Prevention and Treatment,Guangzhou,Guangdong 510300,China)

机构地区：[1]广东省职业病防治院广东省职业病防治重点实验室,广东广州510300 [2]南方医科大学,510515

出　　处：《中国职业医学》2018年第5期548-552,共5页China Occupational Medicine

基　　金：国家自然科学基金(81302387);广东省医学科研基金(A2017227);广东省职业病防治重点实验室(2017B030314152)

摘　　要：目的探讨8-羟基鸟嘌呤DNA糖苷酶1(h OGG1)基因5'侧翼区多态性单体型在广东省氡辐射地区汉族人群中的分布及其遗传特征。方法采用Haplo View软件分析本研究前期筛查确证的广东省氡辐射地区汉族人群中h OGG1基因5'侧翼区目的片段(-1721 nt^+164 nt)中8个多态性位点-1493 G> A、-1455 G> A、-1293 A> T、-1187 C> A、-834 G> C、-337 C> A、-323 G> A和-18 G> T的群体遗传学特征、连锁不平衡和单体型分布。结果研究对象h OGG1基因5'侧翼区目的片段(-1721 nt^+164 nt) 8个多态性位点中,除-1293 A> T和-337 C> A外,其余6个位点基因型频率均符合Hardy-Weinberg平衡(P> 0. 05); 8个多态性位点在该人群中均不存在变异纯合基因型,其杂合度分别为-1493 G> A(0. 081)、-1455 G> A(0. 017)、-1293 A> T(0. 361)、-1187 C> A(0. 140)、-834 G> C(0. 017)、-337 C> A(0. 468)、-323 G> A(0. 017)和-18 G> T(0. 065);连锁不平衡分析结果表明,仅-1493 G> A与-18 G> T呈较强的连锁不平衡关系。本研究构建了广东省氡辐射地区汉族人群中4种多态性单体型,其中主要的野生单体型(H1)频率为87. 4%,其余3种为变异单体型(H2~H4),频率为9. 3%。结论阐明了广东省氡辐射地区汉族人群h OGG1基因5'侧翼区多态性单体型分布及其群体遗传特征。Objective To investigate the distribution and genetic characteristics of haplotype polymorphism on the 5＇-flanking region of 8-hydroxyguanine DNA glycosidase 1（ h OGG1） gene in Han population of radon radiation area in Guangdong Province. Methods Eight polymorphism sites,-1493 G A,-1455 G A,-1293 A T,-1187 C A,-834 G C,-337 C A,-323 G A and-18 G T,in the 5＇-flanking region（-1721 nt-＋ 164 nt） of the h OGG1 gene were confirmed in Han population of radon radiation area in our pre-screening study. Haplo View software was used to analyze population genetics,linkage disequilibrium and haplotype distribution of the above mentioned 8 polymorphism sites. Results Except for-1293 A T and-337 C A,the genotype frequencies of the other 6 polymorphism sites in target fragment（-1721 nt-＋ 164 nt） of h OGG1 gene were in Hardy-Weinberg equilibrium（ P〈0. 05）. No variant homozygous genotype was found in the 8 polymorphism sites in the study population. The heterozygosity of polymorphism sites were-1493 G A（ 0. 081）,-1455 G A（ 0. 017）,-1293 A T（ 0. 361）,-1187 C A（ 0. 140）,-834 G C（ 0. 017）,-337 C A（ 0. 468）,-323 G A（ 0. 017） and-18 G T（ 0. 065）. The results of linkage disequilibrium analysis showed a strong linkage disequilibrium correlation between-1493 G A and-18 G T. Four haplotype polymorphisms were constructed in Han population of radon radiation area in Guangdong Province. The frequency of major wild haplotype（ H1） was 87. 4% and the frequency of the other 3 haplotype variants（ H2 to H4） was 9. 3%. Conclusion We elucidate the population genetic characteristics and distributions of haplotype polymorphism of the 5＇-flanking region of h OGG1 gene in Han population of radon radiation area in Guangdong Province.

关 键 词：氡 辐射 H OGG1 基因多态性 单体型 连锁不平衡 

分 类 号：R135[医药卫生—劳动卫生] R146[医药卫生—公共卫生与预防医学]