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目的探讨蛋白磷酸酶2A(PP2A)-Aα亚基基因启动子区多态性的人群单体型分布特征。方法采用Haploview软件分析部分广东汉族人群PPP2R1A基因5′-侧翼区筛查到的7个多态性位点的遗传学特征、连锁不平衡(LD)、标签(tag)SNP和单体型(域)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);各位点在该人群的杂合度(π)不同,且在-568G>A和+87T>C与HapMap中的不同人群存在明显差异(P<0.05);-1039G>T(+Ins)与+87T>C和+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),频率分布为野生单体型(H1)53%、其余4种变异单体型(H2～H5)为44%;得到两个单体型域,筛选出-1039G>T(+Ins)、-512G>A、-241-/G、+107-/C为4个tag SNP,并确定了2个单体型域内标签SNPs(htSNP)及其分别代表的单体型。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(域)分布。
Objective To investigate the haplotype distribution of the polymorphism in the promoter region of protein phosphatase 2A (PP2A) -Aα subunit gene. Methods The Haploview software was used to analyze the genetic characteristics, linkage disequilibrium (LD), SNP and haplotype of seven polymorphic sites of PPP2R1A gene in Guangdong Han population. )distributed. Results The genotype frequency of each polymorphism locus was in accordance with HW balance (P> 0.05). The heterozygosity (π) of each locus was different in this population, and between -568G> A and + 87T> C and different populations in HapMap There was a significant difference (P <0.05) between the -1039G> T (+ Ins) and +87 T> C and +108 A> G and the -568G> A and -241- / And complete transcriptase between + 108A> G. Five haplotypes (H1 ~ H5) were constructed and the frequency distribution was 53% of wild type (H1). The other four haplotypes (H2 ~ H5) was 44%. Two haplotypes were obtained, and four tag SNPs were selected as -1039G> T (+ Ins), -512G> A, -241- / G and +107- / C, Two haplotype tag SNPs (htSNP) and their haplotypes, respectively. Conclusions The SNP and haplotype distribution of the 5’-flanking region of PPP2R1A gene in healthy Han population in Guangdong province, China were identified and reported for the first time.