精氨酸加压素基因多态性在广西人群中的分布

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。

Distribution of the genetic polymorphism of arginine-vasopressin gene in Guangxi population

Objective To study the frequencies of allele and genotype distribution of arginine-vasopressin (AVP) gene rs2282018, rs3787482 and rs1887854 single nucleotide polymorphism (SNP) in 303 Chinese Guangxi population, and to compare the distribution differences among different ethnicses. Methods Polymerase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing were taken to detect the allele and genotype frequencies of the AVP gene among 303 Chinese Guangxi population, and they were compared with other four populations (HapMap-CEU, HapMap-YRI, HapMap-JPT, HapMap-HCB) from Human Genome Project group (HapMap) data. Results We found that there were AVP gene polymorphisms in Guangxi populations. Comparing with other four populations, and the frequencies of allele and genotype distribution of AVP gene rs2282018 polymorphism had significant difference between Guangxi and HapMap-YRI populations. The frequencies of allele and genotype distribution of AVP gene rs3787482 polymorphism had significant difference between Guangxi and HapMap-YRI，HapMap-CEU populations. The frequencies of allele and genotype distribution of AVP gene rs1887854 polymorphism had significant difference between Guangxi and HapMap-YRI, HapMap-CEU and HapMap-Han populations. The distribution frequencies of AVP gene were significantly different compared with other ethnic population. Conclusion These differences may account for the different morbidity of AVP-related disease among ethnicses. It may play an important role on the studies of population genetics and anthropology.