保山地区汉族儿童维生素D受体基因多态性调查

Polymorphism of vitamin D receptor gene Bsm I of the Han nationality children in Baoshan City

目的针对云南省保山市汉族儿童开展分子流行病学调查,研究维生素D受体(VDR)基因多态性分布,获得本地区汉族儿童钙吸收情况,提高儿童科学补钙的依从性并促进儿童生长发育。方法选取2016年至2019年在医院进行体检的汉族儿童作为研究对象,共计120人。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Fok I基因位点多态性,分析基因型和等位基因频率分布,并与已报道的其他地区的数据进行比较。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的基因型频率分别为93.3%、6.7%,无AA基因型,G、A等位基因频率分别为96.7%、3.3%。VDR Fok I位点TT、TC、CC的基因型频率分别为24.2%、55.0%、20.8%,T、C等位基因频率分别为51.7%、48.3%。3)VDR Bsm I和Fok I两位点连锁有6种组合,频率最高的是GG/TC(52.5%),没有AA/TT、AA/TC和AA/CC组合。两位点间存在连锁不平衡(D′=0.469,r2=0.007)。结论获取保山地区汉族儿童VDR Bsm I和Fok I位点基因多态性的群体遗传学特征,与其他地区儿童有所区别,具有地域特异性。

Objective:To carry out a molecular epidemiological survey on Han nationality children in Baoshan City,Yunnan Province,to study the distribution of vitamin D receptor(VDR)gene polymorphisms,to obtain calcium absorption in Han nationality children in the region,and to improve children's compliance with scientific calcium and promote children's growth and development.Methods:A total of 120 Han nationality children who underwent physical examinations in the hospital from 2016 to 2019 were selected as the research subjects.Collect oral epithelial exfoliated cells,extract genomic DNA,detect VDR Bsm I and Fok I loci polymorphisms using fluorescent quantitative PCR,analyze genotype and allele frequency distributions,and compare with data from other regions that have been reported.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 and GA were 93.3%and 6.7%,respectively.There was no AA genotype,and the frequencies of G and A alleles were 96.7%and 3.3%,respectively.The genotype frequencies of TT,TC,and CC of VDR Fok I loci were 24.2%,55.0%,and 20.8%,and the frequencies of T and C alleles were 51.7%and 48.3%,respectively.3)There are 6 combinations of VDR Bsm I and Fok I two-point linkage,the highest frequency is GG/TC(52.5%),and there is no AA/TT,AA/TC and AA/CC combination.There is linkage disequilibrium between the two points(D′=0.469,r2=0.007).Conclusion:The population genetic characteristics of VDR Bsm I and Fok I loci polymorphisms in Han nationality children of Baoshan area are different from children in other areas and they are geographically specific.