中文摘要：

目的：探讨中国汉族男性人群中5-羟色胺受体1B基因（HTR1B）单核苷酸多态性（SNP）的遗传特征。方法：通过基因再测序筛查155例汉族男性人群HTR1B基因多态性位点，采用HaploView软件分析筛查到的多态性位点的遗传学特征、连锁不平衡（LD）、标签SNP和单体型（域）分布。结果：155例汉族男性人群中，HTR1B基因SNP位点包含5′-侧翼区的rs17273700（-860A〉G）、rs1228814（-700G〉T）、rs11568817（-262 A〉C）、rs130058（-161T〉A），编码区的rs6298（＋129A〉G）、rs6296（＋861G〉C）和3′-侧翼区的rs6297（＋1180T〉C）；各多态性位点基因型频率均符合Hardy-Weinberg平衡（P〉0.05）；rs17273700与rs11568817位点之间（｜D′｜=1.0，2r=0.94）和rs6296与rs6298位点之间（｜D′｜=0.946，r=0.849）呈强LD关联；该人群主要存在8种单体型，占94.2%，其中最主要为野生单体型H1（46.0%）；筛选出-860A〉G、-700G〉T、-161T〉A、＋129A〉G、＋1180T〉C共5个标签SNP和两个单体型域，-860A〉G和＋129A〉G分别为其代表性单体型标签SNP（htSNP）。结论：本研究首次筛查出HTR1B基因在中国汉族男性人群中的合适的标签SNP和htSNP，减少了后续研究的SNP位点数目，为探讨其与疾病的关系奠定了基础。

英文摘要：

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.