A study on distribution of TGFβ1 gene promoter region-509C/T polymorphism in 383 cases of chinese han healthy subjects

Objective To investigate the distribution of single nucleotide polymorphisms(SNPs) at the locus-509 in TGFβ1 gene promoter region and to compare them with data from other populations.Methods Genomic DNA was extracted from 383 healthy Chinese Han subjects,genotypes of-509C/T of the TGFβ1 gene promoter region were determined by PCR-RFLP and direct DNA sequencing,results were compared with data from Japan,Italy and North korea with chi square test.Results ① genotypes frequencies of TGFβ1-509C/T were CC∶CT∶TT=125(0.326)∶189(0.494)∶69(0.180,and allele frequencies were C∶T=0.573:0.427.② No significant difference was found in both the genotypes and alleles frequencies when compared with data from the three reported populations.Conclusion TGFβ1 gene promoter region-509C/T is highly heterogenous in Chinese Han population.There was no significant difference in the allele and genotype frequencies of this polymorphisms among the Chinese Han and the Japanese,Italian and North Korean populations.