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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。
Objective To understand the distribution of Fok I polymorphism of vitamin D receptor (VDR) gene in Korean children in Yanbian area and lay a foundation for further study on the relationship between VDR gene polymorphism and bone metabolism. Methods Fluorescent quantitative PCR was used to detect the Fok I polymorphism of VDR gene in 98 Yanbian area children. The genotype and allele frequency distribution was analyzed and compared with the reported data of other ethnic groups and ethnic groups . Results The frequencies of ff, Ff and FF genotypes of VDR gene in this study population were 23%, 40% and 37%, respectively. The distribution was in accordance with statistics of Achang, Yunnan, Dongxiang, Gansu and Afro-American and Nigerian Significance (P <0.05). Conclusion The frequency distribution characteristics of VDR gene Fok I locus and its alleles in Korean children in Yanbian area have their own characteristics.