癌变·畸变·突变Issue(5)：343-347,5.DOI:10.3969/j.issn.1004-616x.2014.05.005
155例汉族男性人群5-羟色胺受体1B基因单核苷酸多态性的特征分析
Analysis of serotonin receptor 1B gene single nucleotide polymorphisms in 155 Chinese Han men
摘要
Abstract
OBJECTIVE:To investigate the genetic characteristics of single nucleotide polymorphisms (SNPs) in serotonin receptor 1B gene (HTR1B) in Chinese Han males.METHODS:SNPs located in HTR1B were identified in 155 cases of target population through sequencing in this study. The genetic characteristics,linkage disequilibrium (LD) of each polymorphism locus,tag SNPs,haplotypes and their blocks were analyzed with HaploView software.RESULTS:Seven SNPs were obtained: rs17273700(-860A>G),rs1228814(-700G>T),rs11568817 (-262A >C) and rs130058(-161T>A) in the 5´-flanking region,rs6298(+129A>G),rs6296(+861G>C) in the coding region and rs6297(+1 180T>C) in the 3´-flanking region. All the allele frequencies were in the Hardy-Weinberg equilibrium (P>0.05). There were high LD between the polymorphisms of -860A>G and -262A>C. +129A>G and +861G>C alsoshowed high LD in this population. Eight major haplotypes (H1-H8) accounting for 94.2% were established,while the frequency of wild type haplotype (H1) was 46.0%. -860A>G,-700G>T,-161T >A,+129A>G,+1 180T>C were determined as tag SNPs. Twohaplotype blocks were constructed and -860A >G,+129A>G were determined as their htSNPs.CONCLUSION:The appropriate tag SNPs and htSNPs inHTR1B are established in Chinese Han males for the first time. It lowered the number of SNP loci in further research,and p rovided t he b asis for explorations of their a ssociation with diseases.关键词
HTR1B基因/单核苷酸多态性/单体型Key words
HTR1B gene/single nucleotide polymorphisms/haplotype分类
医药卫生引用本文复制引用
曾繁松,李文,肖斌,徐国勇,陈慧峰,林瀚生,陈青松,黄汉林..155例汉族男性人群5-羟色胺受体1B基因单核苷酸多态性的特征分析[J].癌变·畸变·突变,2014,(5):343-347,5.基金项目
国家自然科学基金(81202183)，广东省医学科学技术研究基金(B2013024) （81202183）
