延边地区朝鲜族儿童维生素D受体基因Fok I位点多态性研究

目的了解延边地区朝鲜族儿童维生素D受体(vitamin D receptor,VDR)基因Fok I位点的多态性分布特点,为进一步研究VDR基因多态性与骨代谢疾病的关系打下基础。方法应用荧光定量PCR方法,检测98名延边地区朝鲜族儿童的VDR基因Fok I位点多态性,分析该基因型和等位基因频率分布,并与已报道的其他民族、种族的数据进行比较。结果本研究人群VDR基因ff、Ff、FF基因型的分布频率分别为23%、40%、37%,该分布情况与国内云南阿昌族、甘肃东乡族以及国外美国黑人、尼日利亚人的差异具有统计学意义(P<0.05)。结论延边地区朝鲜族儿童VDR基因Fok I位点基因型和等位基因的频率分布特征有其自身的特点。

Polymorphism of vitamin D receptor gene Fok I in the Korean children in Yanbian district

Objective To explore the polymorphism distribution of vitamin D receptor(VDR)gene Fok Ⅰin the Korean children in Yanbian Province for further study on relation between VDR gene polymorphisms and metabolic bone disease. Methods A total of 98 Korean children were recruited and collected oral epithelial cells.Genome DNA for fluorescence quantitative PCR to detect SNP of Fok Ⅰ were extracted.The results were compared with the distribution frequency of Fok Ⅰin other nations or races. Result The frequency of Fok Ⅰ( ff,Ff,FF ) in Korean children were 23%,40%,37% respectively,which were significant difference to Achangs,Dongxiang nationality,Americans and Nigerian (P<0.05). Conclusion Fok Ⅰ polymorphism distribution in Korean children exhibits its own characteristics.