淄博市汉族育龄女性维生素D受体基因多态性分布

Distribution of vitamin D receptor gene polymorphisms in women of childbearing age in Han nationality in Zibo city

目的针对淄博市汉族育龄女性开展分子流行病学调查,探讨维生素D受体(VDR)的基因多态性分布,获取淄博市的群体遗传学特征。方法以2018年7月—2020年1月到淄博市中医医院进行围孕期检查的352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(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89.2%、10.8%、0%,G、A等位基因频率分别为94.6%、5.4%。VDR Taq I位点TT、TC及CC的基因型频率分别为87.5%、12.5%及0.0%,T、C等位基因频率分别为93.8%、6.3%。(3)VDR Bsm I和Taq I两位点连锁有4种组合,频率从高到低依次是GG/TT(86.6%)、GA/TC(9.94%)、GG/TC(2.56%)及GA/TT(0.85%)。两位点间存在高度连锁不平衡(D’=0.915,r^(2)=0.716)。结论获取淄博市汉族女性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 investigation on Han women of childbearing age in Zibo City to study the distribution of vitamin D receptor(VDR)gene polymorphisms,and obtain the population genetic features in Zibo City.Methods A total of 352 healthy women of Han nationality who received examination during pregnancy in Zibo Hospital of Traditional Chinese Medicine from July 2018 to January 2020 were taken as the research subjects.Exfoliated cells of oral mucosa were collected,genomic DNA was extracted,and the gene polymorphisms of VDR Bsm I and Taq I loci were detected by fluorescent quantitative PCR method for statistical analysis.Results The genetic polymorphism distribution of the subjects was in line with genetic balance.The genotype frequencies of GG,GA,and AA at the VDR Bsm I loci were 89.2%,10.8%and 0.0%,and the G and A allele frequencies were 94.6%and 5.4%,respectively.The genotype frequencies of TT,TC,and CC of VDR Taq I loci were 87.5%,12.5%and 0.0%,respectively,and the frequencies of T and C alleles were 93.8%and 6.3%,respectively.(3)There are 4 combinations of VDR Bsm I and Taq I two-point linkage,and the frequencies are GG/TT(86.6%),GA/TC(9.94%),GG/TC(2.56%),and GA/TT(0.85%)in descending order.There is a high degree of linkage disequilibrium between the two points(D’=0.915,r^(2)=0.716).Conclusion The population genetic characteristics of VDR Bsm I,Taq I genotypes and allele frequency distributions of Han women in Zibo were obtained.