A study on single nucleotide polymorphism of exon 7 T/C (locus 593) of platelet-activating factor acetylhydrolase gene in healthy Han population in the Shanghai region

Objective To investigate the distribution of single nucleotide polymorphism (SNP) in platelet-activating factor acetylhydrolase (PAF-AH) gene exon 7 T/C (locus 593) in healthy Han population in Shanghai region and the features different from other races. Methods The SNP in PAF-AH gene exon 7 T/C (locus 593) was detected and analyzed by PCR and sequencing in 110 healthy Han people from Shanghai areas. The genotype and allele frequency were then calculated and compared with that in other races in combination with review of relevant literature. Results The amplified product of the SNP in PAF-AH gene exon 7 T/C (locus 593) was 240 bp in 110 healthy Han people, of whom 97 were with TT genotype and 13 with TC genotype, but no CC genotype was found. As to the allele frequency distribution, T type allele took the highest position, and C type followed. The genotype frequency of TT and TC was 88.2% and 11.8%, respectively, and they were markedly different from that in German population (0.95%), while not statistically significant different from that in British population (7.67%). Conclusions There exists SNP in PAF-AH gene exon 7 T/C (position 593) in healthy Han people in Shanghai region, with a higher frequency of T→C mutation. The mutational genotype frequency is found to be located at the locus 593 is 11.81%, and it is markedly different from that in German population, but not significantly different from that in British population.