关键词: 甘油三酯, 基因型, 基因多态性, 载脂蛋白A5

Abstract: Polymerase chain reaction-restriction fragments length polymorphism (PCR-RFLP) was used to explore the distribution of apolipoprotein A5 gene -1131T>C and 56C>G polymorphisms in 257 healthy Hubei Han people. The following results were calculated: the frequency of -1131TT genotype was 50.9%, far more than that of -1131TC and -1131CC genotypes (32.9% and 16.2%, respectively). The number of T allele carriers was higher than that of C carriers, and their respective frequencies were 0.675 and 0.325. There were 56GG and 56GC genotypes, but only 2 individuals in all subjects carried the G allele, the frequency of which was low than 5%. Furthermore, the frequency of genotypes and alleles in apoa5 -1131T>C and 56C>G polymorphisms was clearly different from other races and areas. We conclude that the apoa5 -1131T>C variation should be considered a single nucleotide polymorphism, but the 56C>G variation should be considered as a mutation instead.