广东汉族人群TLR9基因单核苷酸多态性及其单倍型(英文)

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.

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

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 1387 T/C) were detected,of which two were in the upstream regulatory region,two (one nonsynonymous and one synonymous)A/G,and 2484 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.