广东汉族人群TLR9基因单核苷酸多态性及其单倍型(英文)  

Single nucleotide polymorphisms and haplotypes of TLR9 gene in Cantonese people population

作　　者：王峻梅[1] 付永贵[2] 刘泽寰[1] 肖文娟[1] 

机构地区：[1]暨南大学生命与健康工程研究院分子生物研究中心,广州510632 [2]中山大学生命科学学院生化系,广州510275

出　　处：《兰州大学学报（自然科学版）》2010年第3期131-135,138,共6页Journal of Lanzhou University(Natural Sciences)

基　　金：Supported by Program for New Century Excellent Talents in University(NCET-05-0745);The Project of National Natural Science Foundation of China(30500450);The 211 Grant of MOE,and Natural Science Foundation of Guangdong Province(8151063201000047).

摘　　要：采用PCR扩增和直接测序法对191例健康且无血缘关系的广东汉族人群筛查了TLR9全基因序列,包括调控区、5′非翻译区、第1,2外显子、内含子及3′非翻译区上所有的单核苷酸多态性(SNP)位点.共检出五个SNP位点,分别为调控区的-1 486 T/C和-1 421 C/T、内含子区的+1174 A/G、第2外显子的+1 387 T/C和+2848 G/A,其中-1421 C/T和+1 387 T/C为首次发现的新位点.连锁不平衡分析表明-486 T/C,1174 A/G以及2848 G/A之间存在紧密连锁,并且涵盖了整个基因区域,形成了一个单倍域.在此基础上运用Hhase软件构建了TLR9基因的单倍型,共得到七种单倍型并模拟了它们可能的分布频率.进一步的中性检验表明TLR9基因在广东汉族人群中符合中性进化模式.The entire TLR9 locus including the promoter region,5＇-UTR,two exons,one intron,and 3＇- UTR were sequenced from 191 unrelated healthy Cantonese individuals from Guangdong.Totally 5 single nucleotide polymorphisms（SNPs） including two novel ones（-1 421 C/T and 1 387 T/C） were detected, of which two were in the upstream regulatory region,two（one nonsynonymous and one synonymous） in the coding exons,and the last one in the intron.The most common SNPs were -1 486 T/C,1 174 A/G,and 2 484 G/A with the minor allele frequencies of 32.2%,31.7%and 30.6%respectively.Linkage disequilibrium analysis showed a close association among these three common SNPs,which extended from the regulatory region to the last exon,indicating that the entire sequence of TLR9 locus can be regarded as a LD block.According to this result,seven TLR9 haplotypes and their frequency distributions were calculated using the phase program.In addition,neutrality test revealed that TLR9 in Cantonese people in Guangdong was not significantly deviated from the neutral model.

关 键 词：TOLL样受体9 单核苷酸多态性 等位基因 基因型 单倍型 

分 类 号：Q341[生物学—遗传学] Q352