›› 2011, Vol. 23 ›› Issue (2): 93-097.doi: 10.3969/j.issn.1004-616x.2011.02.003

• 论著 • 上一篇    下一篇

蛋白磷酸酶2A-Aα亚基基因5 ' 侧翼区多态性在广东汉族人群中的分布

陈慧峰1，罗　洁1，林丽娜1，李 文1，张树江1，万建新2，陈　雯1，林忠宁1，林育纯1,*   

  1. 1. 广东省营养膳食与健康重点实验室，中山大学公共卫生学院，广东　广州　510080；2. 中山大学附属第一医院，广东　广州　510080
  • 收稿日期:2010-10-22 修回日期:2011-01-21 出版日期:2011-03-30 发布日期:2011-03-30
  • 通讯作者: 林育纯

Distribution of genetic　　 polymorphisms in the 5' -flanking region of the PPP2R1A gene in the Cantonese of Southern China

CHEN Hui-feng1，LUO Jie1，LIN Li-na1，LI Wen1，ZHANG Shu-jiang1，WAN Jian-xin2，CHEN Wen1，LIN Zhong-ning1，LIN Yu-chun1,*   

  1. 1. Guangdong Provincial Key Laboratory of Food, Nutrition and Health, School of Public Health, Sun Yat-sen University, Guangzhou 510080; 2. The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, China
  • Received:2010-10-22 Revised:2011-01-21 Online:2011-03-30 Published:2011-03-30
  • Contact: LIN Yu-chun

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摘要： 探讨蛋白磷酸酶2A-Aα亚基基因PPP2R1A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PPP2R1A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) PPP2R1A 基因-1844~+201 nt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(rs11453459)(26.90%)、+87 T>C(rs13344984)(7.94%)、+107 -/C(rs3833207) (30.16%) 和+108 A>G(rs17554825)(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PPP2R1A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

关键词: 蛋白磷酸酶2A, 支架亚基Aα, PPP2R1A基因, 5' 侧翼区, 多态性

Abstract: To investigate the distribution of potential genetic polymorphisms in the promoter region of the protein phosphatase 2A-Aα subunit gene (PPP2R1A) in Guangdong Han population. METHODS: Genomic DNA samples were obtained from randomly selected healthy Cantonese subjects. Direct resequencing was applied to identify and to confirm the polymorphism sites in the 5'-flanking region of PPP2R1A. Allele frequencies of the potential genetic variants in the studied population were analyzed by HaploView Software and compared with HapMap data. RESULTS: 63 DNA samples (126 chromosomes) from the subjects (all Han Chinese) were completely re-sequenced with the PCR amplicons of target gene locus at (-1 844)-(+201) nt fraction. Six single nucleotide polymorphism (SNP) sites (with the MAF)，-1 039 G>T(+Ins) (rs10414793)(8.73%)，-568 G>A (rs1864007)(25.40%)，-241 -/G(rs11453459) (26.90%)， +87 T>C (rs13344984)(7.94%)，+107 -/C(rs3833207)(30.16%) and +108 A>G (rs17554825) (7.94%)，were confirmed. The frequencies of 2 polymorphism sites in our study were different from other foreign populations reported in HapMap data (P<0.05). Meanwhile，a noval potential SNP site，-512G>A(2.38%)，was identified in the current study. CONCLUSION: The PPP2R1A gene polymorphisms in 5' -flanking region and their allele frequencies were identified for the first time and reported in the general Guangdong Han population of Southern China. It provides the basis for further functional analysis of these polymorphism sites.

Key words: protein phosphatase 2A, scaffold Aα subunit, PPP2R1A gene, 5'-flanking region, polymorphism

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