广西人群中神经突起生长抑制因子基因rs2968795G/A和rs10496040A/C多态性分析

Polymorphism analysis of rs2968795G/A and rs10496040A/C on neurite growth inhibitor gene in Guangxi population

目的:分析神经突起生长抑制因子(Nogo)基因rs2968795G/A位点和rs10496040A/C位点在广西人群中的多态性分布特点,并比较其在不同人群间的分布差异。方法:运用多重单碱基延伸法(SNaPshot)和DNA测序法检测323例广西人群的rs2968795G/A位点和rs10496040A/C位点基因型,并用统计学方法比较2个位点的基因型及等位基因频率在男性和女性之间以及不同人群中分布差异。结果:rs2968795G/A位点存在GG、GA、AA 3种基因型,分布频率为18.9%、46.1%、35.0%。此位点基因型及等位基因频率在广西人群的男性和女性间差异无统计学意义。其基因型和等位基因与国际人类基因组单体型图计划(HapMap)公布的欧洲和非洲人群比较差异有统计学意义;rs10496040A/C存在AA、AC、CC3种基因型,分布频率为1.2%、16.4%、82.4%。此位点基因型及等位基因频率在广西人群的男女之间差异无统计学意义。基因型和等位基因频率与欧洲、非洲和日本人群间差异均有统计学意义。结论:Nogo基因rs2968795G/A位点和rs10496040A/C位点基因多态性在不同人群间存在着不同程度差异。这种差异可能对研究其多态性和相关疾病的关系在不同人群间中的差异具有指导意义。

Objective:To analyze the polymorphism distribution of neurite growth inhibitor(Nogo)gene rs2968795G/A and rs10496040A/C in Guangxi people and to compare with different ethnic groups.Methods:The genotypes rs2968795G/A and rs10496040A/C of 323 healthy populations of Guangxi were detected by SNaPshot technique and DNA sequencing,and the distribution frequencies of allele and genotype in different people and genders were analyzed with statistical method.Results:Three genotypes of GG,GA,and AA were found in rs2968795G/A site with the frequency distribution of 18.9%,46.1%,and 35.0%,respectively.The distribution difference of its genotype and allele frequencies between males and females had no statistical significance in the Guangxi population.However,compared with the distribution frequencies of genotype and allele of HapMap-CEU and HapMap-YRI,there were significant differences.Three genotypes of AA,AC,and CC were found in rs10496040A/C with the frequency distribution of 1.2%,16.4%,and 82.4%,respectively.The difference of its genotype and allele frequencies between males and females had no statistical significance in the Guangxi population.but there were significant differences in genotype and allele distribution frequency among Guangxi population,HapMap-CEU,HapMap-YRI,and HapMap-JPT.Conclusion:Rs2968795G/A and rs10496040A/C polymorphisms of Nogo genes vary in different populations.These differences may be of guiding significance for the study of the relationship between polymorphism and related diseases in different populations.