三都县汉族和水族儿童维生素D受体基因多态性分布研究  

Distribution of Vitamin D Receptor Gene Polymorphism in Children of Han Nationality and Shui Nationality in Sandu County

作　　者：陈玲玲 冯小波 蒋桂淑 赵妍霞 潘洪敏 胡季芳 Chen Lingling;Feng Xiaobo;Jiang Guishu;Zhao Yanxia;Pan Hongmin;Hu Jifang(Sandu Shui Autonomous County People's Hospital,Qiannan Buyi and Miao Autonomous Prefecture,Guizhou,558100,China;Shanghai Zhangjiang Puhui Translational Medicine Research Institute,Shanghai,201314,China)

机构地区：[1]三都水族自治县人民医院,贵州黔南布依族苗族自治州558100 [2]上海张江普汇转化医学研究院,上海201314

出　　处：《中外女性健康研究》2023年第2期247-249,共3页Women＇s Health Research

摘　　要：目的:调查研究贵州省汉族和水族儿童维生素D受体(VDR)的基因多态性分布。方法:以在三都县人民医院就诊的218名儿童为研究对象,汉族35人,水族183人。使用荧光定量PCR方法检测VDR Bsm I和Fok I位点基因多态性,进行统计分析。结果:1)入组对象的基因多态性分布符合遗传平衡。2)VDR Bsm I位点GG、GA、AA的基因型频率汉族儿童分别为91.4%、8.6%、0.0%,水族儿童为93.4%、6.6%、0.0%。VDR Fok I位点CC、CT、TT的基因型频率分别为14.3%、48.6%、37.1%,水族儿童为14.2%、51.9%、33.9%。汉族和水族儿童两个位点的基因型频率和等位基因频率差异均无统计学意义(P>0.05)。3)两位点连锁情况汉族及水族儿童均有5种组合,频率最高的都是GG/CT。两位点间存在高度连锁不平衡。结论:获取三都县汉族和水族儿童VDR Bsm I和Fok I基因多态性的群体遗传学特征。Objective:To carry out molecular epidemiological investigation on children of Han and Shui nationalities in Guizhou Province to study the distribution of vitamin D receptor(VDR)gene polymorphism.Methods:A total of 218 children in Sandu County People’s Hospital were selected as the research subjects,including 35 Han nationality and 183 Shui nationality.The exfoliated cells of oral mucosal epithelium were collected,genomic DNA was extracted,and the gene polymorphisms of VDR Bsm I and Fok I locus were detected by fluorescence quantitative PCR method for statistical analysis.Results:1)The distribution of gene polymorphisms of the enrolled subjects accorded with the genetic balance.2)The genotype frequencies of GG,GA,and AA at VDR Bsm I locus were 91.4%,8.6%,and 0.0%in Han children,and 93.4%,6.6%,and 0.0%in Shui children.The genotype frequencies of CC,CT,and TT at VDR Fok I locus were 14.3%,48.6%,and 37.1%,respectively,and those of Shui children were 14.2%,51.9%,and 33.9%.There was no statistically significant difference in the genotype frequency and allele frequency between the two loci between Han and Shui children(P>0.05).3)The two-point chain situation has 5 combinations for Han and Shui children,and the most frequent one is GG/CT.There is a high degree of linkage disequilibrium between the two points.Conclusion:Obtain the population genetic characteristics of VDR Bsm I and Fok I gene polymorphisms in children of Han and Shui nationalities in Sandu County.

关 键 词：维生素D受体 Bsm I位点 Fok I位点 

分 类 号：R394[医药卫生—医学遗传学]