新疆地区维吾尔族、汉族健康人群Tbx20基因多态性研究

Distribution of genetic polymorphisms of Tbx20 in healthy Chinese Uygur and Han populations in Xinjiang

目的研究Tbx20基因标签单核苷酸多态性(tagSNP)在新疆地区维吾尔族及汉族健康人群中的分布特征及其分布差异。方法收集1 000例维吾尔族和1 200例汉族健康人群的血液,选择Tbx20基因的标签SNP:rs17675131、rs4720169、rs2532170,应用TaqMan SNP基因分型的方法进行基因型分析。结果维吾尔族人群rs17675131 3种基因型的分布频率为:AA型11.5%,AG型48.5%,GG型40.0%;汉族人群的分布频率为AA型4.5%,AG型34.0%,GG型61.5%,维、汉族人群基因型分布差异有统计学意义(P<0.05)。维吾尔族人群rs4720169 3种基因型的分布频率为:AA型15.0%,AG型51.0%,GG型34.0%;汉族人群的分布频率为AA型10.2%,AG型42.0%,GG型47.8%,维、汉族人群基因型分布差异有统计学意义(P<0.05)。维吾尔族人群rs2532170 3种基因型的分布频率为:AA型16.0%,AC型51.0%,CC型33.0%;汉族人群的分布频率为AA型11.0%,AC型44.0%,CC型45.0%,维、汉族人群基因型分布差异有统计学意义(P<0.05);维吾尔族A-A-A、GA-A、G-G-C单体型分布频率均高于汉族。结论 Tbx20基因标签位点在新疆维吾尔族和汉族健康人群中的分布具有明显的差异。维吾尔族人群突变频率可能高于汉族人群。

Objective To investigate the single nucleotide polymorphism of Tbx20 gene in healthy Chinese Uygur and Han populations of Xinjiang.Methods The genotypes of the Tbx20 tag SNP rs17675131, rs4720169,rs2532170 were detected with the technique of Real-time fluorescent quantitative PCR in 1 000 healthy Chinese Uygur and 1200 healthy Chinese Han populations of Xinjiang.Results The frequencies of AA,AG and GG genotypes of the rs17675131 were 11.5%,48.5%,and 40.0% in Uygurs,and 4.5%,34.0%and 61.5% in Hans,with a significant difference in the distribution of genotypes between the two popula-tions （P〈0.05）;The frequencies of AA,AG and GG genotypes of the rs4720169 were 15.0%,51.0%, and 34.0% in Uygurs,and 10.2%,42.0%and 47.8% in Hans,with a significant difference in the distribu-tion of genotypes between the two populations （P〈0.05）;The frequencies of AA,AG and GG genotypes of the rs2532170 were 16.0%,51.0%,and 33.0 in Uygurs,and 11.0%,44.0% and 45.0% in the Hans, with a significant difference in the distribution of genotypes between the two populations （P〈0.05）.The frequencies of haplotype A-A-A,G-A-A,G-G-C in Uygurs were proved higher than those in Hans.Con-clusion The mutational frequencies of the taggingSNPs of the Tbx20 gene in the Uygurs were likely to be higher than those in Hans.