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目的探讨精氨酸加压素(AVP)基因单核苷酸多态性(SNP)位点rs2282018、rs3787482和rs1887854在303例广西人群中的分布,并对比不同族群间AVP基因型及等位基因频率分布的差别。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303例广西人AVP基因多态性,分析广西人群3个位点的基因型和等位基因的分布频率,并与人类基因组计划(Hap Map)公布的欧洲人、中国北京汉族人、日本人和非洲人的基因多态性分型数据比较,分析这5个人群人类的基因型及等位基因的分布频率。结果我国广西人群AVP基因rs2282018、rs3787482及rs1887854位点各自具有3种基因型,基因型和等位基因分布与性别无关。与人类基因组计划(Hap Map)公布的欧洲人、非洲人、日本人和中国北京人的单核苷酸多态性分型数据进行比较,广西人群AVP基因不同多态性位点的基因型和等位基因频率在不同地区人群的分布存在差异。结论广西地区人群中存在AVP基因多态性。广西人群AVP基因多态性的分布频率与其他不同地区种族人群比较存在差异。
Objective To investigate the distribution of single nucleotide polymorphism (SNP) rs2282018, rs3787482 and rs1887854 of arginine vasopressin (AVP) gene in 303 Guangxi populations and to compare the genotypes and alleles of AVP between different ethnic groups Differences in frequency distribution. Methods Single nucleotide extension polymerase chain reaction (PCR) and DNA sequencing were used to detect the polymorphism of AVP gene in 303 Guangxi. The frequencies of genotypes and alleles in Guangxi were analyzed. We compared the genotypic and allelic distributions of these five human populations with those of Han, Japanese and African populations published by the Hap Map in Beijing, China. Results The genotypes and alleles of AVP gene rs2282018, rs3787482 and rs1887854 in Guangxi population of China all had three genotypes. The distribution of genotypes and alleles was not related to gender. Compared with the single nucleotide polymorphism (SNP) typing data of European, African, Japanese and Peking Man published by HapMap, the genotypes of different polymorphic sites of AVP gene in Guangxi population and There is a difference in the distribution of allele frequency in different regions of the population. Conclusion There are AVP gene polymorphisms in Guangxi population. The distribution frequency of AVP gene polymorphism in Guangxi population is different from that of other ethnic groups in different regions.