广西壮族人群ABCA1基因R219K和I883M多态性的分布

目的探讨ABCA1基因R219K和I883M多态性在广西壮族人群中的分布。方法采用PCR-RFLP技术对100例无血缘关系的健康壮族人的ABCA1基因R219K位点G→A(Arg219Lys)和I883M位点A→G(Ile883Met)进行检测,121例无血缘关系的健康汉族人做对照。结果在广西壮族人群中ABCA1基因R219K等位基因频率分别为R=0.640和K=0.360,I883M等位基因频率分别为I=0.305和M=0.695,壮族883I等位基因频率和II纯合子基因型频率明显高于汉族,但R219K和I883M多态分布在壮族和汉族人群间的差异均无统计学意义(P>0.05)。而两个位点分布与德国人群相比,差异有统计学意义(P<0.05)。结论ABCA1基因R219K及I883M位点多态性在广西壮族与汉族的分布没有差异,而有别于西方人种,提示该基因多态性具有种族差异性。该数据可以很好地应用于群体遗传学以及其与脂代谢疾病易感性的研究。

ABCA1 Gene R219K and I883M Polymorphism in the Zhuang National Minority in Guangxi

Objective To investigate the distribution of ABCA1 gene R219K and I883M polymorphism in the Zhuang nationality in Guangxi.Methods ABCA1 R219K and I883M genotyping were performed in100 unrelated,healthy,individuals of Zhuang nationality and 121 unrelated healthy individuals of Han population by PCR-RFLP.Results The allele frequencies of ABCA1 gene R219K in the Zhuang nationality were as follows:R=0.640,K=0.360.The allele frequencies of ABCA1 gene I883M in the Zhuang nationality were as follows:I=0.305,M=0.695.Though the frequencies of I allele and II genotype in Zhuang nationality were higher than those in Han population,no significant differences were found in the distribution of ABCA1 gene R219K and I883M genotype and alleles between Zhuang nationality and Han population in Guangxi(P>0.05).However,significant differences were found between Zhuang nationality and German population(P<0.01).Conclusion The polymorphism of ABCA1 gene R219K and I883M in Zhuang nationality are not different from that in Han population,but are very different from that in Hesperian population.These results indicate that the polymorphism of ABCA1 gene R219K and I883M may have racial differences.The results are useful in the research of population genetics and the association of the SNP with lipid metabolism and the susceptibility to coronary atherosclerosis.