镇江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 Zhenjiang City

目的针对镇江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)的基因多态性分布情况。方法选取2016年12月-2020年1月在镇江市妇幼保健院进行围孕期保健的4 069名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。结果入组对象的基因多态性分布符合遗传平衡。VDR Bsm I位点GG、GA及AA的基因型频率分别为90.6%、9.2%及0.2%,G、A等位基因频率分别为95.2%、4.8%。VDR Taq I位点TT、TC及CC的基因型频率分别为89.7%、10.0%及0.3%,T、C等位基因频率分别为94.7%、5.3%。VDR Bsm I和Taq I两位点连锁有8种组合,频率最高的是GG/TT(88.7%),没有AA/TT组合。两位点间存在高度连锁不平衡(D’=0.888,r2=0.705)。结论获取镇江市汉族女性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 carry out a molecular epidemiological survey on women of childbearing age of Han nationality in Zhenjiang City to study the distribution of vitamin D receptor(VDR) gene polymorphism. Methods A total of 4 069 healthy Han women who underwent peri-pregnancy care at the Zhenjiang Maternity and Child Health Hospital from December 2016 to January 2020 were selected as the research subjects. The oral mucosal epithelial exfoliated cells were collected, genomic DNA was extracted, and the fluorescence quantitative PCR method was used for detection. VDR Bsm I and Taq I locus gene polymorphisms were analyzed statistically.Results The distribution of gene polymorphisms of the enrolled subjects accorded with genetic balance. The genotype frequencies of GG, GA, and AA at VDR Bsm I locus were 90.6%, 9.2%, and 0.2%, respectively, and the frequencies of G and A alleles were 95.2% and 4.8%, respectively. The genotype frequencies of TT, TC, and CC at VDR Taq I locus were 89.7%, 10.0%, and 0.3%, respectively, and the frequencies of T and C alleles were 94.7% and 5.3%, respectively. There were 8 combinations of VDR Bsm I and Taq I two-point linkage, the most frequent is GG/TT(88.7%), there was no AA/TT combination. There was a high degree of linkage disequilibrium between the two points(D’=0.888,r2=0.705). Conclusion Obtain the population genetic characteristics of the VDR Bsm I and Taq I genotypes and allele frequency distribution of Han nationality women in Zhenjiang City.