中国湖北地区健康人群RAC1基因多态性的测定与分析  

Analysis of RAC1 gene polymorphism in Hubei Chinese healthy population

作　　者：周嘉黎[1] 刘亚妮[1] 沈如飞[2] 杨春晓[1] 罗小梅[1] 张玉[1] 师少军[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院药剂科,武汉430022 [2]华中科技大学同济医学院附属同济医院心内科,武汉430030

出　　处：《中国免疫学杂志》2014年第10期1297-1301,1308,共6页Chinese Journal of Immunology

基　　金：国家自然科学基金项目(No.81273591);湖北省自然科学基金资助项目(No.2009CDB380);中央高校基本科研业务费专项资金资助(No.2011JC039)

摘　　要：目的:探讨人RAC1基因上8个单核苷酸多态性位点的基因型在中国湖北地区汉族健康人群中的分布情况,为进一步研究RAC1基因多态性与相关疾病及药物反应性之间的关系做铺垫。方法:采用实时荧光TaqMan-MGB探针等位基因分型技术测定150例湖北地区健康志愿者的RAC1基因上8个单核苷酸多态性位点的基因型,并采用分片段扩增直接测序方法对上述位点进行抽样验证。结果:所选8个位点均符合Hardy-weinberg平衡,其中rs10951982与rs9374,rs702482与rs836488位点间高度连锁不平衡,并运用Heploview软件筛选出6个Tag-SNPs:rs10951982、rs6954996、rs6951997、rs12977、rs702482、rs702483。本研究建立的方法能够准确地测定人RAC1基因上的SNP位点的基因分型,所选的人RAC1基因上8个SNP位点在中国湖北地区人群中的最小等位基因频率与Hap Map数据库中北京地区汉族人群、亚洲人群相近,但亦观察到了人种之间的分布差异。结论:所测RAC1基因上8个位点的频率分布在本研究中的湖北人群中未观察到统计学差异,但是与已有数据库中其他人种的MAF比较有较大差异性。Objective：To establish a method for the detection of 8 single nucleotide polymorphisms（SNPs） of RAC1 gene,and to analyze the genotypic and allelic distributions of the 8 SNPs in healthy Chinese Han population. Methods： The real-time fluorescence TaqMan-MGB probes allele classification technology was used for the determination of the 8 SNPs in 150 cases of healthy volunteers in Hubei China,and the results were validated by direct gene sequencing. Results： The method established in this study can accurately screen the genotypes of the 8 SNPs of human RAC1 gene. Highly linkage disequilibriums were found between rs10951982 and rs9374,rs702482 and 836488,respectively. All the 8 sits were in accordance with Hardy-Weinberg equilibrium. Six Tag-SNPs were selected by Heploview software： rs10951982,rs6954996,rs6951997,rs12977,rs702482 and rs702483. The MAFs of the 8 SNPs in our study were close to the MAFs in CHB and Asian in Hap Map database. Significant distribution differences were also observed in different races. Conclusion： No significant differences are observed in this study in healthy Chinese Han population. But differences are found when compared with the data of other races in Hap Map.

关 键 词：RAC1 单核苷酸多态性 基因测序 健康湖北人群 

分 类 号：R394.5[医药卫生—医学遗传学]