珠海市汉族育龄女性维生素D受体基因多态性分布情况  

Distribution of vitamin D receptor gene polymorphisms in women of childbearing age in the Han nationality in Zhuhai

作　　者：尹保民[1] 刘晓玲[1] 金萍[1] 严津晶 胡季芳 鲁衍强 杨琦[3] YIN Bao-Min;LIU Xiao-Ling;JIN Ping(Zhuhai Maternal and Child Health Hospital,Zhuhai,Guangdong 519001,China)

机构地区：[1]珠海市妇幼保健院,广东珠海519001 [2]上海张江普汇转化医学研究院,上海201314 [3]中国疾病预防控制中心妇幼保健中心,北京100081

出　　处：《中国妇幼保健》2021年第21期5059-5061,共3页Maternal and Child Health Care of China

基　　金：中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0193)。

摘　　要：目的对珠海市汉族育龄女性开展分子流行病学调查,研究维生素D受体(VDR)的基因多态性分布。方法以孕期保健的7983例汉族健康女性为研究对象,采集口腔黏膜上皮脱落细胞,抽提基因组DNA,使用荧光定量PCR方法检测VDR Bsm I和Taq 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及AA的基因型频率分别为90.2%、9.7%及0.2%,G、A等位基因频率分别为95.0%、5.0%。VDR Taq I位点TT、TC及CC的基因型频率分别为89.6%、10.2%及0.2%,T、C等位基因频率分别为94.7%、5.3%。(3)VDR Bsm I和Taq I两位点连锁有8种组合,频率最高的是GG/TT(88.3%),无GG/CC组合。两位点间存在高度连锁不平衡(D’=0.858,r^(2)=0.695)。结论获取珠海市汉族女性VDR Bsm I、Taq I基因型和等位基因频率分布的群体遗传学特征。Objective To conduct a molecular epidemiological survey of women of childbearing age in the Han ethnic group in Zhuhai to study the distribution of vitamin D receptor(VDR)gene polymorphisms.Methods A total of 7,983 healthy Han Chinese women during pregnancy were taken as research subjects.Exfoliated cells of oral mucosa were collected,genomic DNA was extracted,and the genetic polymorphisms of VDR Bsm I and Taq I loci were detected by fluorescent quantitative PCR method for statistical analysis.Results(1)The genetic polymorphism distribution of the subjects was in line with genetic balance.(2)The genotype frequencies of VDR Bsm I loci GG,GA,and AA were 90.2%,9.7%,and 0.2%,and the G and A allele frequencies were 95.0%and 5.0%,respectively.The genotype frequencies of TT,TC,and CC of VDR Taq I loci were 89.6%,10.2%,and 0.2%,and the frequencies of T and C alleles were 94.7%and 5.3%,respectively.(3)There are 8 combinations of VDR Bsm I and Taq I two-point linkage.The highest frequency is GG/TT(88.3%),and there is no GG/CC combination.There is a high degree of linkage disequilibrium between the two points(D’=0.858,r^(2)=0.695).Conclusion The population genetic characteristics of VDR Bsm I,Taq I genotypes and allele frequency distribution of Han women in Zhuhai were obtained.

关 键 词：育龄女性 维生素D受体 基因多态性 

分 类 号：R173[医药卫生—妇幼卫生保健]