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目的探讨Nogo基因中错义突变的rs117465650C/T位点在广西人群中的多态性分布特点,分析其在不同人群间的分布差异。方法通过多重单碱基延伸法(SNa Pshot)与DNA测序法检测323例无血缘关系的广西人中rs117465650C/T位点基因型,并用统计学方法分析其基因型及等位基因频率在不同性别间及不同人群中分布差异。结果rs117465650C/T位点存在CC、CT、TT 3种基因型,频率分别为64.4%、31.3%、4.3%,其基因型及等位基因频率在男女之间差异无统计学意义(P>0.05)。其基因型和等位基因与千人基因组项目公布的欧洲、非洲和日本人群的比较差异有统计学意义(P<0.05),与北京人群比较差异无统计学意义(P>0.05)。结论 Nogo基因rs117465650C/T位点多态性在不同人群间存在着不同程度差异,对研究其多态性和疾病的关系可能具有一定的指导意义。
Objective To investigate the polymorphism distribution of rs117465650C / T with missense mutation in Guangxi population and to analyze the distribution differences among different populations. Methods Genotypes of rs117465650C / T in 323 non-related Guangxi were detected by SNa Pshot and DNA sequencing. The genotypes and allele frequencies of rs117465650C / Differences in distribution among different populations. Results There were three genotypes of CC, CT and TT in rs117465650C / T locus with frequencies of 64.4%, 31.3% and 4.3%, respectively. There was no significant difference in genotype and allele frequencies between male and female genotypes (P> 0.05 ). There was significant difference between the genotype and allele and the population of Europe, Africa and Japan published by Thousands of Genome Project (P <0.05), but no significant difference with Beijing population (P> 0.05). Conclusion The polymorphism of rs117465650C / T locus in Nogo gene is different in different populations. It may be of guiding significance to study the relationship between polymorphism and disease.