TIM-3基因-1516、-574、4259单核苷酸多态性及连锁不平衡分析  

Linkage disequilibrimn analysis of - 1516, - 574 and 4259 single nucleofide polymorphisms in T/M-3 gene

作　　者：陈治中[1] 王琳[1] 李洪[2] 崔天盆[1] 李一荣[1] 胡丽华[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院检验科,武汉430022 [2]华中科技大学同济医学院附属协和医院呼吸内科

出　　处：《中华医学遗传学杂志》2008年第1期101-104,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30672008）

摘　　要：目的调查T细胞免疫球蛋白粘蛋白-3基因（T cells immunoglobulin mucin-3 gene, TIM-3 ） -1516, - 574,4259单核苷酸多态性（single nucleotide polymorphisms, SNP）的发生频率及是否存在连锁不平衡（linkage disequilibrium, LD）关系。方法采用等位基因特异性聚合酶链反应（allele-specific polymerase chain reaction, AS-PCR）方法对湖北地区147名健康个体TIM-3基因- 1516G/T, - 574T/G,4259G/T 3 个 SNP位点进行基因分型，应用软件Arlequin V3．1对3个SNP位点进行LD及Hardy-Weinberg平衡分析，并计算单倍型频率及单倍型组成。结果3个TIM-3基因SNP位点等位基因频率分布符合Hardy—Weinberg平衡。湖北地区147名正常个体TIM-3基因-1516G／T、-574T／G、4259G／T3个 SNPs的次要等位基因发生频率分别是8．5％、1．0％、2．0％。TIM-3基因3个SNP主要组成4种单倍型：G-G-G, G-G-T,T-G-T, G-T-T; 其频率分别为2．0％、88．4％、8．5％、1．0％。通过对这3个SNP位点两两间进行LD分析，发现所有的连锁不平衡系数D＇（coefficient of linkage disequilibrium, D＇）值都为1。结论湖北地区人群TIM-3基因-1516G／T、-574T／G、4259G／T3个SNP位点呈完全连锁不平衡。本研究结果提供了中国湖北地区汉族人群TIM-3基因这3个SNP的群体遗传学资料，并且为寻找与免疫介导性疾病相关单倍型奠定了基础。Objective To investigate the frequencies of - 1516, - 574 and 4259 single nueleotide polymorphisms （SNPs） of T cells immunoglobulin mucin -3（TIM-3） gene in Hubei population and address the question whether they are in linkage disequilibrium（LD） . Methods Genotypes and allele frequencies of TIM-3 gene were examined by allele-specific polymerase chain reaction （AS-PCR） methods in 147 healthy Hubei Han individuals. Hardy-Weinberg equilibrium and Two-point LD analyses and haplotype frequencies were evaluated with Arlequin v3.1 software. Results The allele frequencies of the 3 SNPs were in agreement with Hardy-Weinberg equilibrium. Minor allelic frequencies of TIM-3 - 1516G/T, - 574T/G and 4259G/T were 8.5%, 1.0% and 2.0%, respectively. The dominant haplotypes comprising the three loci were G-G-G（2.0% ）, G-G-T（88.4% ）, T-G-T（8.5% ） and G-T-T（ 1.0% ）. LD analyses re- vealed that all of the coefficient of linkage disequilibrium （D＇） were 1. ConduMon The - 1516, - 574 and 4259 loci of TIM-3 gene are in complete linkage disequilibrium. Our study has provided population genetic data on TIM-3 gene in Chinese Hubei Han population and a basis for searching immune-mediated disease-related TIM-3 haplotype.

关 键 词：单核苷酸多态性 T细胞免疫球蛋白粘蛋白-3基因 基因型 单倍型 等位基因特异性聚合酶链反应 连锁不平衡 

分 类 号：R394[医药卫生—医学遗传学]