中国广西人群Nogo-C基因rs17046518 G/A多态性研究

摘要

目的 了解Nogo-C基因3'-非翻译区单核苷酸多态性(SNP)各等位基因及基因型在中国广西地区人群中的分布频率,比较其在不同种族同分布的差异,旨在为人类学及群体遗传学研究提供前瞻性基础资料.方法 采用单碱基延伸的PCR技术和DNA测序法检测199例中国广西人的Nogo-C基因3'-非翻译区rs17046518 G/A多态性,并结合人类基因组计划(Hapmap)公布的四个人群(欧洲人、非洲人、日本人和中国北京人)的SNP分型数据,比较分析这五个人群的基因型及等位基因的分布频率.结果 Nogo-C基因型AA、GA和GG频率分别为69.8％、25.1％和5.0％；等位基因A、G频率分别为82.4％和17.6％.其基因型及等位基因频率在男女组间比较差异无显著性；但与欧洲和非洲人群比较,Nogo-C基因多态性的分布频率均存在显著性差异(P均＜0.05)；而与日本和北京人比较差异无显著性.结论 在中国广西人群中存在Nogo-C基因多态性,且与性别无相关性.Nogo-C基因型分布及等位基因频率在不同种族间存在明显差异,符合遗传学规律.此为进一步人类学及群体遗传学的研究和基因多态性普查奠定了基础,并为进行疾病前瞻性研究提供了重要的分子遗传学数据.%Objective To study the frequencies of allele and genotype distribution of Neurite growth inhibitor-C ( Nogo-C) gene 3'-untranslated region single nucleotide polymorphism (SNP) in Chinese Guangxi populations, and to analyze the distributions of Nogo-C polymorphism among different races, so to provide prospective basic information for anthropology and population genetics research. Methods The Nogo-C gene rsl7046518 G/A polymorphism was examined by the poly-merase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing methods in 199 Chinese Guangxi populations, frequencies of allele and genotype of Nogo-C gene rel7046518 G/A polymorphism was analyzed for Guangxi populations compared with the other four populations ( HapMap-CEU, HapMap-YRI, HapMap-JPT and HapMap-HCB) from Human Genome Project group (Hapmap) data. Results Nogo-C genotype frequencies of AA, GA and GG were 69. 8% , 25.1% and 5.0% , and allele frequencies of A and G were 82.4% and 17.6% in Chinese Guangxi populations respectively. The frequencies of genotype and allele of Nogo-C gene rsl7046518 G/A polymorphism showed no significant difference between male and female group (P > 0.05). The frequencies of allele and genotype distribution of Nogo-C gene rsl7046518 G/A polymorphism showed significant difference compared with HapMap-CEU and HapMap-YRI populations ( all P < 0.05), the Nogo-C gene polymorphisms showed no significant difference compared with HapMap-JPT and HapMap-HCB (P > 0.05). Conclusions There exists Nogo-C gene polymorphism in Guangxi populations, and which was not correlated with gender. The frequencies of polymorphism distribution of Nogo-C gene exist significant difference in different ethnic populations, which in line with genetic law. It might play a basis role for anthropology, population genetics research and gene polymorphism survey, and provide an important molecular genetics data for disease prospective study.