应用Hapmap数据库分析HBG1-HBD基因间序列单倍型及标签SNP的挑选

医学研究生学报 2016 年 12 月第 29 卷第 12 期J Med Po吨~»1,^〇1.29, No. 12, December, 2016•1281•

论著

(I础研堯)应用Hapmap数据库分析基因间序列单倍型及标签SNP的挑选

韩文平,黄盛文,黄凌,王偬颖,韩媛媛,王予川,安邦权

[摘要]目的HSG1-HSZ)基因间序列在7珠蛋白基因表达有重要作用,文中分析中国北京汉族人群HSG1-HSZ)基因

间序列的单倍型并挑选标签SNP(tagSNP)。方法从Hapmap数据库中下载HSGl-HSZ)基因间序列上中国北京汉族人群的所有SN P数据。应用HapWiew 4.0软件对H B G1-H B D基因间序列的SN P位点进行连锁不平衡分析,在此基础上构建 tfSGl-HSZ)基因间序列范围的单倍域及单倍型。用M E G A5.10软件对单倍型进行聚类分析,根据SNP之间的r2值挑选出可代 表不同类型单倍型的tagSNP。结果在中国北京汉族人群中,HSG1-HSZ)基因间序列中共有2个单倍域(Blockl和Block2),分别有7种和3种单倍型,发生频率均>1%。通过聚类分析将Blockl的单倍型分为2组,可通过相互代表的11个 tagSNP进行分组,11 个SNP依次为:rs3813727、rsl0837643、rs4320977、rs4283007、rs4402323、rs4910543、rs4910736、rs2105819、rs968857,rs968856,rsl0768687〇结论获得了中国北京汉族人群中HSG1-HSZ)基因间序列的单倍型及tagSNP,为研究/fflGl-HSZ)基因间序列的单倍型与7珠蛋白基因表达的相关性打下了基础。

[关键词]H apm ap;/fflGl-/fflZ)基因间序列;单倍型;标签S N P位点

[中图分类号]Q812 [文献标志码]A[文章编号]1008-8199(2016)12-1281-05

[D O I]10.16571/http://m.wendangku.net/doc/7310c0b4185f312b3169a45177232f60ddcce73f.html ki.1008-8199.2016.12.011

Haplotypes and tagSNPs selected in the HBG1-HBD intergenic region: Analysis based on the Hapmap database HAN Wen-ping1,HUANG Sheng-wen1,HUANG ling1,WANG Si-ying1,HAN Yuan-yuan1,WANG Yu-chuan2, AN Bang-quan1

(1,Department of Laboratory, Affiliated People's Hospital of Guizhou Medical University, Guiyang550002, Guizhou, China;2.Department of Pediatrics, Affiliated People's Hospital of Guizhou Medical University, Guiyang550002, Guizhou, China)

[Abstract ] Objective The HBG1-HBD intergenic region plays an important role in the expression of the gamma globin gene. This study aimed to analyze haplotypes and select tagSNPs in the HBG1-HBD intergenic region in the Chinese Han population of Bei­jing. Methods We downloaded from the Hapmap database the literature on the genotype of SNPs in the HBG1-HBD intergenic re­gion in the Chinese Han population of Beijing. Based on the results of linkage disequilibrium analysis between SNPs in the HBG1-HBD

基金项目:国家自然科学基金(81260089);贵州省科技创 新人才团队建设项目(黔科合人才团队[2015 ]

4019号);贵州省科学技术基金项目(黔科合J

字[2〇15]2〇91 号)

作者单位= 550002贵阳,贵州医科大学附属贵州省人民医 院检验科[韩文平(医学硕士)、黄盛文、王傯

颖、韩媛媛、安邦权],儿科(王予川)

通讯作者:安邦权,E-m ail:anhonggao@ http://m.wendangku.net/doc/7310c0b4185f312b3169a45177232f60ddcce73f.html intergenic region with the Haploview 4.0 software, we constructed analysis of the haplotypes using the MEGA5.10 software, and selected tagSNPs to represent different haplotype types according to the r2 val­ues between the SNPs. Results There were two haplotype blocks (block 1and block2) in the HBG1-HBD intergenic region in the Chi­nese Han population of Beijing, with 7 and 3 haplotypes respectively, and the frequency of each haplotype was >1%. Through clustering a­nalysis, the haplotypes in block 1were divided into two groups haplotype blocks and haplotypes in this region, performed a clustering

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