Genetic polymorphisms of hOGG1 in the 5'-flank region in population of radon exposure area in Guangdong Province / 中国职业医学

ABSTRACT

OBJECTIVE: To screen genetic polymorphisms in the 5'-flank region of 8-hydroxyguanine DNA glycosylase( hOGG1) gene and analyze the characteristics of their genetic distribution in Han population of radon exposure area in Guangdong Province. METHODS: A simple random sampling method was used to select 60 subjects as radon exposure population. The genomic DNA samples were extracted from peripheral blood. The single nucleotide at-1721 nt-+ 164 nt locus of hOGG1 were screened using polymerase chain reaction( PCR) amplification,purification and direct sequencing for polymorphisms. Genetic characteristics of single nucleotide polymorphisms( SNP) in the study population were analyzed and compared with different populations reported in Hap Map data. RESULTS: The 5'-flank region of hOGG1 were amplified and sequenced in these 60 individuals( 120 chromosomes) of healthy Han Chinese in radon exposure area. Eight SNPs were identified by sequence alignment in the study population. Among them,there was 3 known polymorphisms and their minor allele frequencies( MAF) were-1493 G > A( 4. 2%),-834 G > C( 0. 8%) and-18 G > T( 3. 3%),respectively. The MAF of other 5 novel variations were-1455 G > A( 0. 8%),-1293 A > T( 23. 3%),-1187 C > A( 7. 5%),-337 C > A( 36. 7%) and-323 G > A( 0. 8%),respectively. The differences in the MAF distribution of-1493 G > A between the study population and the Hap Map-CEU were statistically significant( P < 0. 05). CONCLUSION: Eight SNPs and their genetic characteristics were screened and identified in the 5'-flank region of hOGG1 of Han Chinese population in radon exposure area. This result provides a basis for construction of polymorphism haplotypes and functional analysis for the target population.