湖北汉族人群载脂蛋白A5遗传多态性分析

采用聚合酶链反应-限制性片断长度多态性(polymerase chain reaction restriction-fragment length polymorphism, PCR-RFLP)对257例湖北健康汉族人群APOA5 -1131T>C及56C>G基因多态性进行鉴定。结果发现: 湖北汉族人群中ApoA5 -1131T>C存在TT、TC、CC基因型, 3种基因型的频率分别为50.9%、32.9%及16.2%; 56C>G位点存在CC、CG基因型, 257名研究对象中, G等位基因分布频率小于5%; 各基因型频率和等位基因频率在不同种族和地域间分布存在显著性差异。结论: 湖北汉族人群中ApoA5基因-1131T>C位点存在单核苷酸多态性(single nucleotide polymorphism, SNP), 56C>G在该人群中应视为一个突变位点而不是多态性位点

Analysis of apolipoprotein A5 gene polymorphisms in Hubei Han people

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.