宁夏籍汉族大学生雌激素受体β基因多态性的分布特征  

Distribution characteristics of estrogen receptor β gene polymorphism in Ningxia Han college students

作　　者：杨梦怡 徐彧 张静[1] 霍正浩[1] 马占兵[1] 党洁[1] 陆宏[1] Yang Mengyi;Xu Yu;Zhang Jing;Huo Zhenghao;Ma Zhanbing;Dang Jie;Lu Hong(Ningxia Medical University,Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education,Basic Medical College,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学教育部生育力保持省部共建重点实验室,基础医学院,银川750004

出　　处：《解剖学杂志》2022年第4期351-355,378,共6页Chinese Journal of Anatomy

基　　金：宁夏自然科学基金(2021AAC03148);国家自然科学基金(32160211)。

摘　　要：目的:探讨雌激素受体β(ERβ)基因rs1256049、rs4986938位点单核苷酸多态性在宁夏籍汉族大学生的分布特征。方法:采用TaqMan探针基因分型法,分析宁夏籍汉族1 156名(男516例,女640例)大学生ERβ基因rs1256049、rs4986938两位点多态性在不同性别间的分布特征,并与国内报道及1000 Genomes网站上公布的其他地区或种族健康人群进行比较。结果:宁夏籍汉族大学生ERβ基因rs1256049、rs4986938位点各基因型及等位基因频率分布在不同性别间差异无统计学意义。与国内已报道结果相比,rs1256049位点多态性与湖南、湖北、成都和广西汉族及广西壮族人群间的分布均有显著性差异,与江苏汉族人群间差异无统计学意义;rs4986938位点多态性与湖南和成都汉族人群间的分布均有显著性差异,与江苏、湖北和广西汉族及广西壮族人群间差异无统计学意义。与1000 Genomes网站结果相比,rs1256049、rs4986938两位点多态性与中国南方人群、欧洲人群和非洲人群的分布差异均有显著统计学意义,与北京汉族和日本人群差异均无统计学意义。结论:宁夏籍汉族大学生ERβ基因rs1256049、rs4986938位点各基因型和等位基因频率分布在性别间无显著差异性,与国内不同地区及国外不同种族人群间的差异性可能与遗传背景不同有关。Objective:To investigate the distribution characteristics of genotype and allele frequency of estrogen receptor β(ERβ) gene rs1256049 and rs4986938 single nucleotide polymorphisms of Han college students in Ningxia.Methods:This study employed the TaqMan probe genotyping method to analyze the sexual difference of the SNPs distribution characteristics of ERβ gene in 1 156 Han college students(516 males and 640 females) from Ningxia,and the results were compared with the healthy populations from other regions or races reported in China and 1000 Genomes website.Results:There were no significant differences in the distribution of genotypes and allele frequencies of ERβ gene rs1256049 and rs4986938 sites between the sexes among Han college students in Ningxia.Compared with the results reported in China,the distribution of rs1256049 had statistically significant differences in the frequency of polymorphism distribution with Hunan,Hubei,Chengdu,Guangxi Han and Guangxi Zhuang populations,and no statistically significant differences with Jiangsu Han populations;the distribution of rs4986938had statistically significant differences in the frequency of polymorphism distribution with Hunan and Chengdu Han populations,and no statistically significant differences with Jiangsu,Hubei,Guangxi Han and Guangxi Zhuang populations.Compared with the results from the 1000 Genomes website,the polymorphism of rs1256049 and rs4986938 were significantly different from the distribution of south China population,European population and African population,but not significantly different from the Han population in Beijing and Japanese population.Conclusion:The frequency distribution of the genotypes and alleles of ERβ gene rs1256049 and rs4986938 has no significant difference between gender among Ningxia Han college students.The differences among different ethnic groups in different regions of China and abroad may be related to the different genetic background.

关 键 词：雌激素受体β基因 单核苷酸多态性 宁夏汉族 大学生 

分 类 号：R394[医药卫生—医学遗传学]