目的 研究广西人群中网状蛋白4（RTN4）基因rs2588519 T/C及rs7582359 A/G位点多态性的分布特征，对比分析不同种族间这两个位点基因型及等位基因频率的分布差异。 方法 运用多重单碱基延伸技术和DNA测序方法检测323例广西健康体检者的RTN4基因rs2588519 T/C及rs7582359 A/G位点基因型，分析其基因型及等位基因频率的分布，并对比HapMap（国际人类基因组单体型图计划）公布的欧洲人、日本人、非洲人和北京人的多态性数据。 结果 在广西人群中，RTN4基因rs2588519 T/C位点存在CC(53.0%)、TC(38.7%)、TT(8.3%) 3种基因型；rs7582359 A/G位点存在AA(7.4%)、AG(37.5%)、GG(55.1%) 3种基因型，这两位点的基因型及等位基因频率在男女间差异无统计学意义(P>0.05)。rs2588519 T/C位点基因型与非洲人群比较差异具有统计学意义(P<0.05)，其等位基因则与欧洲人、日本人和非洲人差异具有统计学意义(P<0.05)；rs7582359 A/G位点基因型及等位基因与欧洲人、非洲人比较差异均有统计学意义(P<0.05)。 结论 RTN4基因rs2588519 T/C及rs7582359 A/G位点多态性分布存在不同程度的种族差异。

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.