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

doi:10.3969/j.issn.1004-616x.2014.05.005

癌变·畸变·突变

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

曾繁松¹，李文²，肖斌²，徐国勇²，陈慧峰²，林瀚生²，陈青松^1，2，*，黄汉林^1，2，*

中山大学公共卫生学院，广东广州 510080

收稿日期:2014-04-09 修回日期:2014-06-10 出版日期:2014-09-30 发布日期:2014-09-30
通讯作者: 陈青松，E-mail：qingsongchen@aliyun.com；黄汉林，E-mail： huanghl@gdoh.org
作者简介:曾繁松(1989- )，男，广东汕头人，硕士研究生，研究方向：物理因素与职业健康。
基金资助:
国家自然科学基金(81202183)，广东省医学科学技术研究基金(B2013024)

Analysis of serotonin receptor 1B gene single nucleotide polymorphisms in 155 Chinese Han men

ZENG Fan-song¹，LI Wen²，XIAO Bin²，XU Guo-yong²，CHEN Hui-feng²，LIN Han-sheng²，CHEN Qing-song^1，2，*，HUANG Han-lin^1，2，*

School of Public Health, Sun Yat-sen University, Guangzhou 510080

Received:2014-04-09 Revised:2014-06-10 Online:2014-09-30 Published:2014-09-30

摘要/Abstract

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(+1 180T>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， r2=0.94)和rs6296与rs6298位点之间(|D′|=0.946，r2=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、+1 180T>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。

关键词: HTR1B基因, 单核苷酸多态性, 单体型

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 also showed 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. Two haplotype blocks were constructed and -860A >G，+129A>G were determined as their htSNPs. CONCLUSION：The appropriate tag SNPs and htSNPs in HTR1B are established in Chinese Han males for the first time. It lowered the number of SNP loci in further research，and provided the basis for explorations of their association with diseases.

Key words: HTR1B gene, single nucleotide polymorphisms, haplotype

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, doi: 10.3969/j.issn.1004-616x.2014.05.005.

ZENG Fan-song，LI Wen，XIAO Bin，XU Guo-yong，CHEN Hui-feng，LIN Han-sheng，CHEN Qing-song，HUANG Han-lin. Analysis of serotonin receptor 1B gene single nucleotide polymorphisms in 155 Chinese Han men[J]. Carcinogenesis, Teratogenesis & Mutagenesis, doi: 10.3969/j.issn.1004-616x.2014.05.005.

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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

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