TRVP1基因多态性在广西汉族人群中的分布

Distribution of TRVP1 gene polymorphism in Guangxi Han population

目的分析广西地区汉族人群瞬时受体电位香草酸亚型1(TRVP1)基因多态性及基因型和单倍型特点,为研究TRVP1与疾病的关系提供依据。方法采用单碱基延伸的聚合酶链反应(PCR)技术和DNA测序法,检测207例健康广西汉族人TRVP1基因多态性,分析广西人群4个位点的基因型和等位基因的分布频率,并与美国国家生物技术信息中心(NCBI)公布的其他人群基因多态性分型数据比较。结果广西汉族人群TRPV1基因rs222747、rs224534、rs4790522和rs8065080位点各具有3种基因型。与人类基因组计划公布的欧洲人群、非洲人群、日本人群和北京汉族人群的单核苷酸多态性分型数据相比,广西汉族人群TRPV1基因不同多态性位点的基因型和等位基因频率与其他地区人群的分布比较,差异有统计学意义(P<0.05)。结论广西汉族人群中存在TRVP1基因多态性,多态性的分布频率与其他地区人群比较,差异有统计学意义。

Objective To analyze the polymorphism of transient receptor potential vanillic acid subtype 1, genotype and haplotype in the population of Guangxi Han population, and to provide the basis for studying the relationship between TRVP1 and and diseases. Methods The polymorphism of TRVP1 gene in 207 healthy Guangxi Han Chinese were de- tected by polymerase chain reaction（PCR） extended by single base and DNA sequencing. The genotype of 4 loci and the frequency of allele distribution in Guangxi population were analyzed and compared with the gene polymorphism data of other populations published by the National Center for Biotechnology Information（NCBI）. Results There were three genotypes respectively in rs222747, rs224534, rs4790522 and rs8065080 loci of TRPV1 gene in Guangxi Han population. There were significant differences（P〈0.05） in genotype and allele frequencies of different polymorphic loci of TRPV1 gene between the Guangxi Han population and those in other regions, compared with the single nu- cleotide polyrnorphism typing data of European population, the African population, the Japanese population and the Beijing Han population published in human genome project. Conclusion There are TRVP1 gene polymorphisms in Guangxi Han population, and there is significant difference in the distribution of polymorphism between the Guangxi Han population and the rest of the population.