Analysis of perforin and granzyme B gene single nucleotide polymorphisms in Han population of Chongqing.

Objective:To investigate the distribution characters and linkage disequilibrium of PRF1 and GZMB gene polymorphisms in Han population of Chongqing.Methods:The single nucleotide polymorphisms(SNPs)in PRF1 and GZMB gene of 100 normal subjects in Han population of Chongqing were detected by DNA sequencing analysis.Results:Two SNPs in exon 3 of PRF1 as well as one SNP in exon 2,two SNPs in exon 3,two SNPs in exon 5 of GZMB were identified,but no SNPs were detected in exon 2 of PRF1.Among them,two novel SNPs were identified in GZMB gene.The frequency distribution of these SNPs was different among different races and territory.In addition,linkage disequilibrium in the SNPs of 3877CT and 3955CT of PRF1 gene was found.There was a strong linkage disequilibrium among the SNPs of GZMB.Conclusion:7 SNPs were detected in PRF1 and GZMB genes all together,two of which were first identified. There is apparent linkage disequilibrium among SNPs of PRF1and GZMB gene in Han population of Chongqing.