323例广西人群Nogo基因错义突变rs117465650C/T多态性研究  

Study on missense mutation rs117465650C/T polymorphism of Nogo gene in 323 cases from Guangxi population

作　　者：王荣[1] 覃海媚 杨凤莲[3] 韦叶生[1] 罗桂飞[2] 王俊利[2] 

机构地区：[1]右江民族医学院附属医院检验科,广西右江533000 [2]右江民族医学院附属医院生殖中心,广西右江533000 [3]右江民族医学院,广西百色533000

出　　处：《现代预防医学》2017年第16期3001-3004,共4页Modern Preventive Medicine

基　　金：国家自然科学基金(81560461)

摘　　要：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 The aim of this study was to investigate the genetic polymorphisms of Nogo gene rs117465650C/T in Guangxi population and analyze the distributional differences in other ethnic groups. Methods The genotypes of rs117465650C/T in Nogo gene were examined by using SNaPshot technique and DNA sequencing in 323 unrelated Guangxi residents. The distribution frequencies of allele and genotype were analyzed in different people and gender with statistical methods. Results Three genotypes of CC, CT, and TT were found in rs117465650C/T site with the frequency distribution of 64.4%, 31.3% ,and 4.3%, respectively. Genotype and allele frequency were not significantly different between different genders in the Guangxi population （P〉0.05）. There was significant difference when Guangxi population was compared with the distribution frequencies of genotype and allele from Europeans, Africans, and Japanese in the 1000 Genomes Project （P〈 0.05）. But there were no significant different between Guangxi and Beijing population （P〉0.05）. Conclusion rsl17465650C/T polymorphism of Nogo gene were different in different population. It may have certain values in guiding the study of association between the polymorphism difference and diseases.

关 键 词：NOGO基因 错义突变 多态性 种族 

分 类 号：Q347[生物学—遗传学]