Distribution of single nucleotide polymorphisms of arginine-vasopressin gene in Guangxi healthy population / 南方医科大学学报

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHDOS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>