云南普洱地区佤族和汉族维生素D受体基因多态性分析  

Polymorphism analysis of vitamin D receptor gene in Wa and Han nationalities in Pu'er area of Yunnan province

作　　者：陈怡颖 杨涵 龙丹丹 陈怡蓉 苏洪 戴欢欢 张亚勤 CHEN Yiying;YANG Han;LONG Dandan;CHEN Yirong;SU Hong;DAI Huanhuan;ZHANG Yaqin(Department of Ophthalmology,Pu'er People's Hospital,Pu'er,Yunnan 665000,China;Department of Reproduction and Genetics,Pu'er People's Hospital,Pu'er,Yunnan 665000,China;Department of Infection Management,Pu'er People's Hospital,Pu'er,Yunnan 665000,China)

机构地区：[1]普洱市人民医院眼科,云南普洱665000 [2]普洱市人民医院生殖遗传中心,云南普洱665000 [3]普洱市人民医院感染管理科,云南普洱665000

出　　处：《现代医药卫生》2023年第17期2909-2913,共5页Journal of Modern Medicine & Health

基　　金：云南省临床医学研究中心开放项目(2020LCZXKF-SZ18);普洱市人民医院院内科研项目(2020YN06;2020YN03)。

摘　　要：目的 了解云南普洱地区佤族和汉族的维生素D受体(VDR)基因多态性分布情况,为进一步研究该地区VDR基因多态性与各种疾病的关系打下基础。方法 以云南普洱地区的汉族和佤族健康人为研究对象,采集口腔黏膜上皮脱落细胞,抽提基因组DNA,使用Sanger测序方法检测VDR ApaⅠ、TaqⅠ、FokⅠ位点的基因多态性,分析基因型和等位基因分布频率,并与已报道的其他民族的数据进行比较。结果 入组对象的基因多态性分布均符合Hardy-Weinberg遗传平衡定律,各基因型之间不存在连锁不平衡。佤族组研究对象的基因型频率:VDR ApaⅠ位点CC、CA、AA基因型频率分别为53.0%、39.0%、7.0%,C、A等位基因频率分别为73.2%、26.8%;VDR FokⅠ位点TT、TC、CC基因型频率分别为28.0%、47.0%、25.0%,T、C等位基因频率分别为53.0%、47.0%;VDR TaqⅠ位点TT、TC、CC基因型频率分别为94.0%、5.0%、0,T、C等位基因频率分别为98.0%、2.0%。汉族组研究对象的基因型频率:VDR ApaⅠ位点CC、CA、AA的基因型频率分别为55.0%、38.0%、7.0%,C、A等位基因频率分别为74.0%、26.0%;VDR FokⅠ位点TT、TC、CC基因型频率分别为28.0%、47.0%、25.0%,T、C等位基因频率分别为51.5%、48.5%;VDR TaqⅠ位点TT、TC、CC基因型频率分别为91.0%、8.0%、1.0%,T、C等位基因频率分别为95.0%、5.0%。结论 普洱地区汉族与佤族人群VDR基因ApaⅠ、Fok I、TaqⅠ位点的多态性分布与其他地区及民族有所区别,具有地域及民族特异性。Objective To investigate the distribution of vitamin D receptor(VDR)gene polymorphism in Wa and Han nationalities in Pu'er area of Yunnan province,and to lay a foundation for further study on the relationship between VDR gene polymorphism and various diseases in Pu'er area.Methods Oral mucosal epithelial exfoliated cells were collected from Han and Wa healthy individuals in Pu'er area of Yunnan province,and genomic DNA was extracted.Sanger sequencing was used to detect the gene polymorphisms of VDR ApaⅠ,TaqⅠand FokⅠlocus.The genotype and allele distribution frequencies were analyzed and compared with the data of other ethnic groups reported.Results The gene polymorphism distribution of the enrolled subjects was in accordance with the Hardy-Weinberg genetic balance law,and there was no linkage disequilibrium between the genotypes.Genotype frequencies of Wa nationality:the frequencies of CC,CA and AA genotypes at VDR ApaⅠlocus were 53.0%,39.0%and 7.0%,respectively;the frequencies of C and A alleles were 73.2%and 26.8%,respectively;the frequencies of TT,TC and CC genotypes at VDR FokⅠlocus were 28.0%,47.0%and 25.0%,respectively;the frequencies of T and C alleles were 53.0%and 47.0%,respectively;the frequencies of TT,TC and CC genotypes at VDR TaqⅠlocus were 94.0%,5.0%and 0,respectively;and the frequencies of T and C alleles were 98.0%and 2.0%,respectively.Genotype frequencies of Han nationality:the genotype frequencies of CC,CA and AA at VDR ApaⅠlocus were 55.0%,38.0%and 7.0%,respective-ly;the allele frequencies of C and A were 74.0%and 26.0%,respectively;the frequencies of TT,TC and CC genotypes at VDR Fok I locus were 28.0%,47.0%and 25.0%,respectively;the frequencies of T and C alleles were 51.5%and 48.5%,respectively;the frequencies of TT,TC and CC genotypes at VDR Taq I locus were 91.0%,8.0%and 1.0%,respectively;and the frequencies of T and C alleles were 95.0%and 5.0%,respec-tively.Conclusion The polymorphism distribution of vitamin D receptor gene ApaⅠ,FokⅠand TaqⅠlocus in Han and Wa popula

关 键 词：佤族 维生素D受体 基因多态性 汉族 基因型频率 

分 类 号：R394.5[医药卫生—医学遗传学]