贵州省布依族和苗族HLA-C基因rs3130542位点多态性研究  

A Study of HLA-C gene rs3130542 SNP Polymorphism in Buyi and Miao Ethnics Groups in Guizhou

作　　者：赵孝梅[1] 何燕[1] 张旺德[1] 张婷[1] 王婵娟[1] 吴昌学[1] 官志忠[1] 

机构地区：[1]贵州医科大学分子生物学重点实验室,贵州贵阳550004

出　　处：《贵阳医学院学报》2016年第1期12-16,23,共6页Journal of Guiyang Medical College

基　　金：国家科技支撑计划项目(2013BAI05B03);贵州省"2011协同创新中心"[黔教合协同创新中心(2014)06号]

摘　　要：目的:研究HLA-C基因rs3130542位点在贵州省布依族和苗族人群中的分布特征,探讨该位点在不同群体间的分布差异。方法:应用Taq Man-MGB探针基因分型方法,检测贵州布依族(289例)和苗族(174例)群体HLA-C基因rs3130542 SNP多态位点的基因频率及基因型频率,比较同一性别不同民族及同一民族不同性别人群间HLA-C基因rs3130542 SNP多态位点的基因频率及基因型频率,并与人类基因组计划网站公布的中国北京人群、日本人群、欧洲人群及非洲人群的分布特点进行比对。结果:布依族和苗族群体比较HLA-C基因rs3130542位点等位基因频率和基因型频率差异有统计学意义(P<0.05),同一民族群体不同性别之间比较HLA-C基因rs3130542位点多态性分布差异均无统计学意义(P>0.05);与人类基因组计划网站公布的其他人群相比,贵州苗族布依族人群HLA-C基因rs3130542位点的基因型频率与中国北京人群间差异有统计学意义(P<0.05),等位基因和基因型频率与日本人群间差异均有统计学意义(P<0.05),但与欧洲人群间差异无统计学意义(P>0.05),等位基因频率与非洲人群间差异有统计学意义(P<0.01)。结论:HLA-C基因rs3130542位点在不同地域、不同民族或种族之间分布存在一定的差异;但在贵州省苗族和布依族同一民族男女性别中的分布差异无统计学意义。Objective： To investigate distribution characteristics of rs3130542 site of HLA-C gene Buyi and Miao ethnics and explore its distribution differences in different minorities. Method： TaqMan-MGB based on real-time PCR was used to determine the gene frequencies and genotype frequencies of HLA-C gene rs3130542 SNP polymorphism in Buyi ethnics（289 cases） and Miao ethnics （174 cases） of Guizhou. The gene frequencies and genotype frequencies of HLA-C gene rs3130542 SNP polymorphism were compared between the same sex people in different nationalities, between the same nationalities in different sexes and between Guizhou population and other populations of different regions and ethnic groups whose gene information was published by Human Genome Project. Results： There were significant differences of allele gene frequencies and genotype frequencies of HLA-C gene rs3130542 SNP polymorphism between Buyi nationality and Miao nationality （P 〈0.05 ）. No statistically significant difference was found between male and female in the same ethnic group about HLA-C gene m3130542 polymorphism distribution （P 〉0.05 ）. There were statistically significant differences of genotype frequencies of HLA-C gene rs3130542 SNP polymorphism between the Buyi, Miao ethnicgroups in Guizhou and the Beijing Chinese people （P 〈 0.05）. There were significant differences of allele frequencies and genotype frequencies of HLA-C gene rs3130542 SNP polymorphism between Buyi, Miao nationality and Japanese population （ P 〈 0.05 ） and there were significant differences of allele gene frequencies of HLA-C gene rs3130542 SNP polymorphism between Buyi, Miao nationality and African population （ P 〈 0.05 ）. However, no significant difference was found in allele frequencies and genotype frequencies of HLA-C gene rs3130542 SNP between the Buyi , Miao ethnic groups and European population. Conclusion： The allele and genotypes frequencies of HLA-C gene rs3130542 SNP locus show significant differences among different ethnic g

关 键 词：HLA-C抗原 基因多态性 等位基因 基因型 少数民族 

分 类 号：R342[医药卫生—基础医学]