广东汉族人群蛋白磷酸酶2A-Bα基因5′侧翼区多态性

Polymorphisms in 5′-flanking region of PP2A-Bα gene in population of Guangdong province

目的探讨蛋白磷酸酶2A-Bα亚基基因PPP2R2A启动子区的多态性在人群中的分布。方法随机选取广东健康汉族人群样本,PCR获得PPP2R2A基因5-侧翼区-1707nt^+309nt的目的片段,再测序筛查并确证遗传变异位点,用Hap loV iew软件分析各等位基因型的人群分布,并与HapM ap中不同人群的数据进行比较。结果成功测序100条染色体中目的片段,发现该部分人群中存在4个遗传变异位点,各等位基因型分布符合Hardy-W e inberg平衡(P>0.05),最小等位基因频率分别为-977C>G(44%)、-348C>T(4%)、-286C>T(16%)和-180T>C(3%);其中-977C>G在该人群分布与HapM ap的国外高加索和约鲁巴人群差异有统计学意义(P<0.05),但与亚洲人群差异无统计学意义(P>0.05)。结论筛查出中国南方广东部分汉族人群中PPP2R2A基因启动子区的3个已知和1个新多态性位点;首次报道等位基因型的分布及其与其他人群的异同。

Objective To investigate polymorphisms in promoter region of the PPP2R2A gene encoding the protein phosphatase 2A-Bα subunit and their distributions in Chinses population.Methods Genomic DNA samples were extracted from healthy Han Cantonese randomly selected in Guangdong province.The genetic variants at-1707nt-＋309nt locus of PPP2R2A were identified by PCR-resequencing.Allele distribution of the variants in the studied population was analyzed by HaploView software and compared with HapMap data.Results Totally 100 chromosomes from healthy individuals were completely resequenced.Four single nucleotide variants were identified in the population and their distributions were in Hardy-Weinberg equilibrium（P0.05）.The minimun allele frequency（MAF） of each variants was-977CG（44%）,-348CT（4%）,-286CT（16%）,and-180TC（3%）,respectively.There was a statistic difference in the distribution of-977CG variant between in the studied population and in the HapMap-CEU or-YRI population（P0.05）,but no significant difference compared with the Asian people（HapMap-HCB and-JPT）（P0.05）.Conclusion Three published and one noval genetic polymorphism sites were identified in the 5＇-flanking region of PPP2R2A gene in healthy Han Cantonese.Their allele distributions and the differences from other population are firstly reported.