Genetype combination distribution and allele frequency distribution of single nucleotide polymorphisms of NOS2 C-1173T and G-954C in the Han Chinese population / 重庆医科大学学报

ABSTRACT

Objective:To study genetype combination distribution and allele frequency distribution of NOS2 C-1173T and G-954C single nucleotide polymorphisms (SNP) of inducible nitric oxide synthase(NOS2) in the Chinese Han nationality population.Methods:Genomic DNA of leukocytes in venous blood was obtained from 565 Han Chinese people(female 251 and male 314).The NOS2 G-954C and NOS2 C-1173T SNPs were genotyped by nested allele-specific primer (NASP)PCR.Results:The genotype frequencies of CC,CT and TT were 66.73%,26.37% and 6.90% respectively in the NOS2 C-1173T SNP.C and T allele haplotype frequencies of NOS2 C-1173T SNP was 79.88% and 20.12% respectively.The genotype frequencies of NOS2 GG,GC and CC were 61.77%,37.88% and 0.35% respectively in the NOS2 G-954C SNP.G and C allele haplotype frequencies was 80.71% and 19.29% respectively in the NOS2 G-954C SNP.The preceding 5 combinations in the natural combination distribution of two sites of NOS2 SNP were found as follows(1)The genotype combination of 233 subjects was NOS2 C-1173C+G-954G,its probability being 41.24%.(2)The genotype combination of 143 subjects was NOS2 C-1173C+G-954C,its probability being 25.31%.(3)The genotype combination of 89 subjects was NOS2 C-1173T+G-954G,the probability being 15.75%.(4)The genotype combination of 59 subjects was NOS2 C-1173T+G-954C,the probability being 10.44%.(5)The genotype combination of 27 subjects was NOS2 T-1173T+G-954G,the probability being 4.78%.Conclusion:This study shows the features of combination distribution and frequency distribuion of NOS2 SNPs and provides the basic laboratory data for the further study relationships among NOS2 SNPs,its physiological function and diseases.