Abstract:

Objective To study the distribution of rs2588519 T/C and rs7582359 A/G polymorphisms of reticulon 4 （RTN4）gene in population of Guangxi, and to analyze the differences of genotype and allele frequencies among different people. Methods The genotypes of rs2588519 T/C and rs7582359 A/G in 323 Guangxi healthy subjects were detected by SNaPshot and DNA sequencing. The distribution of genotype and allele frequencies were analyzed and compared with HapMap-CEU, HapMap-JPT, HapMap-YRIand HapMap-HCB. Results There were CC (53.0%),T/C (38.7%) and TT (8.3%) genotypes of rs2588519 T/C in Guangxi population, while AA (7.4%), AG (37.5%) and GG(55.1%) were found in rs7582359 A/G. There were no significant differences of both genotype and allele frequencies between males and females in these sites(P>0.05). The genotype frequency of rs2588519 T/C was significantly different between HapMap-YRI and Guangxi people(P<0.05), and the allele frequency was significantly different among HapMap-CEU, HapMap-JPT and HapMap-YRI(P<0.05). The genotype and allele of rs7582359 A/G were statistically significant (P<0.05) when compared with those of HapMap-CEU and HapMap-YRI. Conclusion The rs2588519 T/C and rs7582359 A/G polymorphisms of RTN4 gene have different degrees of racial differences.

Key words: Reticulon 4, Gene polymorphism, Population, Multiple single nucleotide primer extension technique, DNA sequencing, Human