作　　者： ; ; ; ; ; ; ; ; ;

机构地区： 中山大学公共卫生学院

出　　处： 《华南预防医学》 2011年第3期1-4,10,共5页

摘　　要： 目的探讨蛋白磷酸酶2A（PP2A）的调节B／PR558亚基基因5’-侧翼区多态性的连锁不平衡和人群单体型分布特征。方法选取经体检排除急慢性疾病的50例广东汉族健康人群为调查对象，以人胱舵D基因5’-侧翼区中-1684A〉G（rslll46169）、-1196C〉T（rs9419202）、-462G〉A（rs7074421）和-1610A〉T为4个纳入的多态性位点，采用HaploView软件分析遗传特征、连锁不平衡（LD）和单体型分布，进行人群分布的x2检验。结果50例广东汉族人群中各多态性位点基因型频率均符合Hardy—Weinberg平衡（P〉0．05）；杂合度（π）分别为-1684A〉G（0．020）、-1610A〉T（0．132）、-1196C〉T（0．059）和-462G〉A（0．059），且均不存在变异纯合型，其中在-1196C〉T和-462G〉A位点明显低于HapMap人群（P〈0．05）；-1196C〉T和-462G〉A位点之间呈完全LD，但其他位点间未见LD关系；构建了该人群的3种单体型（HI～H3），频率分布主要是野生单体型（H1，89．0％），其余2种变异单体型分别为H2（7．0％）和H3（3．0％）；筛选出的3个标签SNP为-1684A〉G、-1610A〉T和-462G〉A。结论确定并报道中国南方广东汉族人群PPP2R2D基因5’-侧翼区中相对保守的标签SNP和单体型分布，为进行该基因启动子区的功能分析提供依据。 Objective To investigate the linkage disequilibrium and distribution of haplotypes in the promoter region of PP2A - B8 subunit gene （PPP2R2D） in population. Methods polymorphisms, - 1684A 〉 G（ rsl 1146169）, - 1196C 〉 T（ rs9419202）, - 462G 〉 A （ rs7074421 ） and - 1610A 〉 T, i- dentified by DNA resequencing in 5＇ - flanking region of PPP2R2D in our previous study, were analyzed with HaploView software and chi - square test for the analysis of genetic index, linkage disequilibrium （LD） , tag SNP and haplotype in 50 healthy Cantonese excluded acute or chronic disease by check-up. Results The genotype frequencies of four single polymorphisms were in the Hardy - Weinberg equilibrium （ P 〉 0.05 ）. The population heterozygosities （ π ） of each polymorphism were - 1684 A 〉 G （ 0. 020 ）, - 1610 A 〉T （0. 132）, - 1196C 〉 T （0. 059） and -462 G 〉 A （0. 059） ,respectively. There was no variant homozygous genotyping. The heterozygosity of - 1196C 〉 T and -462 G 〉 A were significantly low in this population compared with HapMap - CEU and - YRI population （ P 〈 0.05 ）. The polymorphisms were in complete LD for - 1196 C 〉 T and -462 G 〉 A in our studied population. Three major haplotypes（ H1 - H3 ） in 5＇ - flanking region of PPP2R2D were constructed. The frequency of wild type haplotype （ HI ） was 89.0% in current population, and that of two variant haplotypes were 7.0% in H2 and 3.0% in H3. Three polymorphisms determined as tag SNPs were -1684 A 〉 G, -1610 A 〉 T and -462 G 〉 A. Conclusion The tag SNPs and haplotypes in 5＇ - flanking region of PPP2R2D were firstly identified and reported in the Hart Nationality in Guangdong of South China. These results provided the basis for the further functional analysis of these polymorphism haplotypes.

关 键 词： 蛋白磷酸酶 亚基 舵 基因 侧翼区 单体型

领　　域： [生物学]