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

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.