中国北方汉族人群FUT6基因3个SNPs遗传多态性

目的对中国北方汉族人群FUT6基因编码区序列特征及等位基因多态性进行调查。方法测序分析30例中国北方汉族人FUT6基因整个编码区序列并鉴定其单倍型,采用复合PCR与复合限制性内切酶结合的RFLP法分析FUT6基因rs778805（C370T）、G855A及rs61147939（C907G）3个SNPs遗传多态性;应用Haploview4.1软件进行相关统计分析。结果 30例测序样本中共检出8个SNPs和6种单倍型,149例中国北方汉族个体C370T、G855A、C907G基因型分布均符合Hardy-Weinberg平衡。杂合度分别为0.544、0.416、0.510;多态信息含量为0.375、0.372、0.367;个人识别能力为0.600、0.651、0.603;非父排除率为0.187、0.186、0.183。PCR-RFLPs检出13种基因型,单倍型变异度为0.646。Haploview4.1软件分析表明3个SNPs处于连锁不平衡状态。结论中国北方汉族人群FUT6基因编码区序列呈现出高度多态性;C370T、G855A、C907G位点多态性分布良好,但处于连锁不平衡状态。

Study on genetic diversity of three SNPs in the full coding region of human FUT6 gene in a Chinese population

Objective To reveal sequence variation of the full coding region of the human α(1,3)fucosyltransferase gene Ⅵ(FUT6) and investigate the allele polymorphisms in Chinese Han population.Methods Whole coding region of the FUT6 gene was amplified and sequenced in a total of 30 unrelated Chinese individuals.The polymorphic sites,C370T,G855A and C907G that showed even allelic frequency distribution,were further analyzed by multiplex PCR amplification and double restriction endonuclease assay,and total 149 Chinese Han individuals were typed using this technique.The linkage relationships among the above loci were also estimated by Haploview 4.1.Results Eight base substitutions located in the coding region of the FUT6 were found and six haplotypes were inferred.The genotypes distributions of C370T,G855A and C907G loci in the FUT6 gene were in accordance with Hardy-Weinberg equilibrium.The observed He,PIC,DP,and PE were 0.544,0.375,0.600 and 0.187 in C370T;0.416,0.372,0.651 and 0.186 in G855A;and 0.510,0.367,0.603 and 0.183 in C907G respectively.Thirteen genotypes composed of the above three loci were identified by PCR-RFLP assay in this study and its haplotype diversity was 0.646.The Haploview 4.1 software analysis showed that there was highly linkage disequilibrium among C370T,G855A and C907G loci.Conclusion There is higher genetic diversity in the coding region of the human FUT6 gene.The allele distributions of the C370T,G855A and C907G loci,which exhibited linkage inheritance,in the Chinese Han population are highly polymorphic and it may be useful to genetic analysis and forensic caseworks.