儿童维生素D受体基因酶切位点多态性

目的：了解成都地区汉族人群VDR多态性分布情况,为进一步观察其与VDR遗传易感性疾病的相关性打下基础.方法：采用血清学方法,利用限制性内切酶TaqⅠ、ApaⅠ,应用聚合酶链反应（PCR）、限制性片段长度多态性（RFLP）分析、基因测序等技术,测定成都地区正常汉族儿童VDR基因多态性.结果：518名正常汉族儿童中TT、Tt、tt基因型分布频率分别为90.7%、9.1%、0.2%,T、t等位基因频率分别为95.3%、4.7%;AA、Aa、aa基因型分布频率分别为10.8%、36.7%、52.5%,A、a等位基因频率分别为29.2%、70.8%.结论：成都地区汉族儿童VDRTaqⅠ、ApaⅠ酶切位点多态性分布情况,与同属于蒙古人种的其它亚洲国家正常人群的分布频率相似;而与属于高加索人种的分布频率不同.

THE FREQUENCIES OF THE VITAMIN D RECEPTOR GENE POLYMORPHISMS IN CHILDREN.

Objective:To investigate the frequencies of the vitamin D receptor(VDR) gene polymorphisms of the Han nationality in Chengdu for further study on relation between VDR gene polymorphisms and hereditary susceptibility disease.Methods:Blood sample of healthy children of Han nationality in Chengdu were analyzed with restriction enzyme by polymerase chain reaction(PCR),restriction fragment length polymorphism(RFLP) and DNA sequencing.Results:Frequencies of TT,Tt and tt genotypes were 90.7 %,9.1 % and 0.2% respectively;Frequencies of T,t alleles were 95.3% and 4.7% respectively.Frequencies of AA,Aa and aa genotypes were 10.8 %,36.7% and 52.5% respectively;Frequencies of A,a alleles were 29.2% and 70.8% respectively.Conclusions: The frequencies of the vitamin D receptor gene Taq1 and Apa1 polymorphisms in children of the Han nationality in Chengdu are similar to those of other Asian nations of the Mongoloid,but different from those of the Caucasian.