【作者】 陈慧峰； 林育纯； 林丽娜； 李文； 罗洁； 张树江； 万建新； 陈雯； 林忠宁；

【Author】 CHEN Hui-feng,LIN Yu-chun,LIN Li-na,LI Wen,LUO Jie,ZHANG Shu-jiang,WAN Jian-xin,CHEN Wen,LIN Zhong-ning (School of Public Health,Sun Yat-sen University.Guangzhou,510080,China.)

【机构】 中山大学公共卫生学院； 中山大学附属第一医院；

【摘要】 目的探讨中国广东汉族人群蛋白磷酸酶2A(PP2A)-Aα亚基PPP21A基因5’-侧翼区多态性的连锁不平衡(LD)和人群单体型分布特征。材料与方法采用Haploview软件分析筛查到的PPP2R1A基因5’-侧翼区中7个多态性位点的遗传特征、连锁不平衡、标签SNP和单体型分布。结果各多态性位点基因型频率均符合H-W平衡(P>0.05);在该人群中杂合度(π)除新发现的-512G>A位点最低为0.05,其余均大于0.15;-1039G>T(+Ins)与+87T>C和与+108A>G、-568G>A与-241-/G位点之间呈强LD,+87T>C与+108A>G之间为完全LD;构建该人群中的5种单体型(H1～H5),人群中频率分布为野生型单体型(H1)63%、其余4种变异型单体型(H2～H4)为34.6%;得到两个单体型域,筛选出-1039G>T(+Ins)、-512G>A、-241-/G、+107-/C为4个标签SNP(tag SNP),并确定了2个单体型域内标签SNPs(htSNP)分别代表的单体型。结论首次确定并报道中国广东汉族健康人群PPP2R1A基因5’-侧翼区的标签SNP和单体型分布;为进行该基因启动子区多态性单体型的功能分析提供依据。更多还原

【Abstract】 Objective:To investigate the linkage disequilibrium(LD) and haplotypes distribution of genetic variants in 5’-flanking region of PP2A-Aαsubunit gene(PPP2R1A) in Guangdong Han population.Methods: Seven single nucleotide polymorphisms(SNP) identified by DNA sequencing in 5’-flanking region of PPP2R1A in our previous study were analyzed by HaploView software.The genetic characteristics,LD of each polymorphism sites,and the tag SNP were analyzed.The haplotypes and their blocks were obtained.Results: All the allele frequencies are in the Hardy-Weinberg equilibrium(P>0.05);The population heterozygosity(π) of 6 SNPs were higher than 0.15,while a novel-512G>A SNP site was 0.05.It was shown that these polymorphisms were in high LD between-1039G>T and+87T>C,-1039G>T and+108A>G,-568G>A and-241-/G in this study population.The+87T>C and+108A>G were in completely LD.Five major haplotypes were established,while wild type haplotype was 63%.Four polymorphisms,-1039G>T(+Ins),-512G>A,-241-/G and+107-/C,were determined as tag SNPs.Two haplotype blocks were constructed,and their representative haplotypes were constructed with-512G>A and+108A>G as haplotype tag SNP(htSNP).Conclusion:The tag SNPs and haplotypes of genovariants in 5’-fianking region of PPP2R1A were firstly identified and reported in the general Guangdong Han Chinese population.These results provide the basis for the further functional analysis of the promoter haplotypes.更多还原