基础医学与临床 ›› 2010, Vol. 30 ›› Issue (3): 242-245.

• 研究论文 • 上一篇    下一篇

利用生物信息学技术挑选TLR2基因标签单核苷酸多态性位点

陈客宏 曾灵 顾玮 黄舒娜 刘庆 蒋建新   

  1. 第三军医大学大坪医院野战外科研究所 第三军医大学 大坪医院 野战外科研究所 第三军医大学大坪医院野战外科研究所
  • 收稿日期:2009-06-29 修回日期:2009-09-22 出版日期:2010-03-05 发布日期:2011-05-04
  • 通讯作者: 蒋建新

Selecting the tag SNPs of TLR2 gene with bioinformatics techniques

Ke-hong CHEN, Ling ZENG, Wei GU, Shu-na HUANG, Qing LIU, Jian-xin JIANG   

  1. Institute of Surgery Research; Daping Hospital, the Third Military Medical University Institute of Surgery Research;Daping Hospital.The Third Military Medical University Institute of Surgery Research; Daping Hospital, the Third Military Medical University
  • Received:2009-06-29 Revised:2009-09-22 Online:2010-03-05 Published:2011-05-04
  • Contact: Jian-xin JIANG

摘要: 目的 利用生物信息学技术挑选中国人群中的TLR2基因标签单核苷酸多态性(SNP)位点。方法 利用NCBI数据库,确定TLR2基因研究范围,并利用Hapmap数据库下载中国人群的TLR2基因的SNPs数据;使用Haploview 4.0软件对TLR2基因进行了连锁不平衡分析;通过对D'值95%可信区间上下限的分析,在整个TLR2基因范围内构建单倍域(Haplotype block);然后根据单倍域内SNPs之间的r2值和LOD值,挑选标签SNP;最后根据单倍域内的单倍型所占比例,挑选出标签SNP代表的单倍型。结果 在中国人群中,TLR2全基因范围内共构建2个单倍域,挑选出3个标签SNPs(3013 A/G、19216 T/C、22215 G/T)。同时,确定了单倍域内的标签SNPs分别代表的单倍型。结论 中国人群的TLR2基因的3个SNPs位点(3013 A/G、19216 T/C、22215 G/T)是最有代表性的标志性位点,可被选为标签SNPs,并指导中国人群TLR2基因与脓毒症关联研究。

关键词: TLR2, 单倍域, 标签SNP, 单倍型

Abstract: Objective To select the tag SNPs of TLR2 gene in the Chinese population with bioinformatics techniques. Methods We ascertained the assayed scope of the TLR2 gene with the aid of NCBI database and downloaded SNP genotype data of the TLR2 gene in the Chinese population from Hapmap database. Then a software package named Haploview (version 4.0) were used to calculate linkage disequilibrium (LD) statistics. Haplotype blocks were constructed throughout the TLR2 gene according to the upper and lower 95% confidence bound of the D' value. Meanwhile, we selected the tag SNPs based on r2 values and the LOD value between SNPs and picked up the representative haplotypes in accordance with the proportion of each haplotype in the haplotype blocks, respectively. Results We constructed 2 haplotype blocks within the TLR2 gene and selected 3 tag SNPs containing 3013 A/G, 19216 T/C, 22215 G/T in the Chinese population. Meanwhile, we identified the representative haplotypes of which the tag SNP would be on behalf of every haplotype block. Conclusion The SNPs of 3013 A/G, 19216 T/C and 22215 G/T, the most representative SNPs in the whole TLR2 gene in the Chinese population, could be selected as tag SNPs to guide their association studies between the TLR2 gene and sepsis.

Key words: TLR2, haplotype block, tag SNP, haplotype

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