高原人群铁调素基因单核苷酸多态性研究

Study on single nucleotide polymorphism of hamp gene in plateau population

目的了解铁调素基因(hamp)基因单核苷酸多态性(SNP)各等位基因及基因型在中国高原人群中的分布频率,比较其在不同种族间分布的差异。方法采用单碱基延伸的PCR技术和DNA测序法检测高原人群的hamp基因SNP,选取197例藏族和190例汉族高原人群(西藏)作为研究对象,并结合人类基因组计划公布的4个人群[欧洲人群、非洲人群、日本人群及平原人群(北京)和千人基因组计划公布的5个人群(东亚、欧洲、非洲、美国和南亚)]的SNP分型数据,比较基因型及等位基因频率分布差异。结果在本研究中发现高原人群(西藏)存在8个SNP位点,均位于hamp基因内含子区,与平原人群(北京)在8个位点中差异均无统计学意义;与其他人群相比,在rs8101606位点上与欧洲人群和非洲人群相比差异有统计学意义,在rs7251432上与日本人群和非洲人群相比差异有统计学意义,在rs2293689位点上与欧洲人群和日本人群差异有统计学意义,在rs55863037A/G等位基因频率上仅与欧洲人群比较差异有统计学意义。结论在高原人群(西藏)中存在hamp基因多态性,与其他种族人群比较有明显差异。

Objective To understand the distribution frequencies of alleles and genotypes in hamp gene single nucleotide polymorphisms(SNP)in plateau population,and to compare their distribution differences among different ethnic groups.Methods The hamp gene SNP in plateau population was detected by adopting the single-base extension PCR and DNA sequencing.One hundred and ninety-seven cases of Zang nationality and 190 cases of Han nationality in the highland population of China(Tibet)were selected as the study subjects.Then the genotype and allele frequency distribution differences were compared by combining with the SNP classification data of the four groups European,African,Japanese and plain population(Beijing)published by the Human Genome Project and the five groups(East Asia,Europe,Africa,America and South Asia)published by the One Thousand-Genome Project.Results The study found that 8 SNP loci existed in the highland populations(Tibet),which all were located in the intron area of hamp gene.No statistically significant difference in 8 loci was found between the highland population and the plain population(Beijing).Compared with the other populations,the difference at the rs8101606 locus compared with Europe population and Africa population had statistical significance;the difference at the rs7251432 locus compared with Japan population and Africa population had statistical significance,the difference at the rs2293689 locus compared with Europe population and Japan population had statistical significance,and the difference in the rs55863037A/G allele frequency only compared with Europe population had statistical significance.Conclusion The hamp gene polymorphism exists in the highland population of China(Tibet),which shows significant difference compared with other ethnic groups.