Genetic polymorphism analysis on the 5'-flanking region of the PPP2R5C gene in 75 cases of Guangdong Han nationality

Objective To investigate the polymorphisms in the promoter region of the PPP2R5C gene encoding the B56γ subunit of protein phosphatase 2A(PP2A-B56γ) and their distributions in population.Methods The genomic DNA samples were randomly selected from healthy Han Cantonese in Guangdong.The genetic variants were identified by resequencing and blasting directly the PCR products targeted to the 5'-flanking region of PPP2R5C.Allele distribution of the variants in the studied population were analyzed by HaploView software and compared with HapMap data.Results 75 healthy individuals(150 chromosomes) were completely resequenced with the targeted PCR amplicons at-1933nt~+241nt locus of PPP2R5C.Five single nucleotide variants were identified,but no statistical significant differences were found between the distribution of their alleles in age groups or in gender groups(P0.05).The minimum allele frequencies(MAF) of each variants was-1447CT(0.67%),-1430GA(19.33%),-1274TC(19.33%),-563GC(19.33%) and-526TC(0.67%),respectively.A slight difference without statistical significance was shown on the data of MAF and distribution between the population in this study and the populations in the HapMap-HCB or abroad(P0.05).Conclusion The genetic polymorphisms in 5'-flanking region of PPP2R5C gene and their allele distribution were firstly reported in the general Han Cantonese from Southern Chinese population.