南方医科大学学报

南方医科大学学报 ›› 2016, Vol. 36 ›› Issue (07): 927-.

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精氨酸加压素基因rs66818855A/G和rs1078152C/T在广西健康人群中的分布

向阳，郭静，彭友帆，蓝艳，黄华佗，韦叶生   

  • 出版日期:2016-07-20 发布日期:2016-07-20

Distribution of single nucleotide polymorphisms of arginine-vasopressin gene in Guangxi healthy population

  • Online:2016-07-20 Published:2016-07-20

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摘要： 目的研究精氨酸加压素（AVP）基因单核苷酸多态性（SNP）位点rs66818855和rs1078152在广西健康人群中的分布，并对 比不同种族间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，分析广西人群这两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 果在我国广西人群中存在AVP基因rs66818855和rs1078152多态性，分别有AA、AG、GG，CC、CT、TT三种基因型。与人类基 因组计划公布的欧洲人、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，AVP基因rs66818855、rs1078152 位点基因型和等位基因频率在广西人群和欧洲人群的差异具有统计学意义（P均<0.01）；rs66818855位点等位基因频率与非洲 人相比差异具有统计学意义（P<0.05）。结论在广西地区人群中存在着AVP基因多态性。广西人群AVP基因多态性的分布与 其他种族人群比较存在有差异，这种差异也许是与AVP相关的疾病在不同地区人群间发病率不同的原因之一，对于群体遗传学 及人类学的研究可能起非常重要的作用。

Abstract: Objective To study the distribution of single nucleotide polymorphisms (SNP) of arginine-vasopressin (AVP) gene rs66818855 and rs1078152 in Chinese Guangxi healthy population in comparison with that in different ethnic populations. Methods Polymerase chain reaction-single base extension (PCR-SBE) and DNA sequencing were used to detect the allele and genotype frequencies of AVP gene among 303 Chinese healthy individuals in Guangxi, China, and the results were compared with the reported frequencies in 4 other populations (HapMap-CEU, HapMap-YRI, HapMap-JPT, and HapMap-HCB) from Human Genome Project group (HapMap) data. Results We found significant AVP gene polymorphisms in this Guangxi healthy population. The frequencies of allele and genotype of AVP gene rs66818855 and rs1078152 polymorphisms in this Guangxi population differed significantly from those in HapMap-CEU population (P<0.01), and allele frequencies of AVP gene rs66818855 polymorphism differed significantly from those in HapMap-YRI populations (P<0.05). Conclusion The distribution pattern of AVP gene polymorphisms in this Guangxi population is significantly different from that in other ethnic populations, which might account for the difference in the morbidity of AVP-related disease among different ethnic groups and may have important indications in the study of population genetics and anthropology.