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目的:探讨蛋白磷酸酶2A-Aα亚基基因PPP2RIA启动子区的遗传多态性在中国南方汉族人群中的分布特征。方法:随机选取部分广东汉族人群,获取全血基因组DNA。PCR扩增获得PPP2RIA基因5′-侧翼区的目的片段产物直接再测序,筛查并确证潜在的基因多态性位点,采用HaploView软件进行该人群多态性等位基因分布频率的分析、并与HapMap结果进行分布特征比较。结果:PCR扩增和成功测序63例健康人(126条染色体)PPP2RIA基因-1 844～+201nt的目的片段,序列比对发现该人群中6个已知多态性位点及其人群最小等位基因频率分别为-1 039 G>T(+Ins)(rs10414793,但其中T等位基因型含有29个碱基片段的插入)(8.73%)、-568 G>A(rs1864007)(25.40%)、-241 -/G(rsl 1453459)(26.90%)、+87 T>C(rs13344984)(7.94%)、+107 -/C(rs3833207)(30.16%)和+108 A>G(rs1 7554825)(7.94%);且其中2个位点在该人群中的分布与HapMap公布的国外人群数据存在不同(P<0.05);同时,该人群中还发现-512 G>A(2.38%)的潜在新多态性位点。结论:筛查PPP2RIA基因5′-侧翼区在中国广东汉族人群中多态性位点的等位基因分布,为进一步开展多态性功能性分析提供基础。
Objective: To investigate the distribution of the PPP2RIA promoter region of protein phosphatase 2A-A alpha subunit gene in Chinese Han population of southern China. Methods: We randomly selected part of Guangdong Han population to obtain whole blood genomic DNA. The target fragment of 5’-flanking region of PPP2RIA gene was directly amplified by PCR. The potential polymorphism sites were screened and confirmed. HaploView software was used to analyze the distribution frequency of alleles in this population. Compared with HapMap results. Results: Sixty-two known polymorphisms of PPP2RIA gene from 844 to + 201 nt in 63 healthy individuals (126 chromosomes) were sequenced and sequenced. The least known alleles The gene frequencies were -1 039 G> T (+ Ins) (rs10414793, but the T allele contained a 29 base fragment insertion) (8.73%), 568 G> A (rs1864007) , +241 - / G (rsl 1453459) (26.90%), +87 T> C (rs13344984) (7.94%), +107 - / C (rs3833207) (30.16%) and +108 A> G (rs1 7554825) (7.94%). And the distribution of the two loci in this population was different from the data of the foreign population released by HapMap (P <0.05). At the same time, the potential of -512 G> A (2.38%) was also found in this population New polymorphic site. Conclusion: The allele distribution of the 5’-flanking region of PPP2RIA gene in polymorphic loci in Guangdong Han population of China was screened, which provided the basis for further functional analysis of polymorphisms.