Abstract:

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.

Key words: Arginine-vasopressin, Polymorphism, Ethnic group, Polymerase chain reaction-single base extension, DNA sequencing, Human