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目的了解深圳地区汉族儿童维生素D受体(VDR)基因BsmⅠ和FokⅠ位点的多态性分布特点,为提高儿童科学补钙的依从性并促进儿童生长发育。方法应用荧光定量PCR方法,检测233名深圳地区汉族儿童的VDR基因BsmⅠ和FokⅠ位点多态性,分析各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。结果本研究人群VDR Bsm I位点bb、Bb、BB基因型的分布频率分别为88.4%、11.6%、0,b、B等位基因频率分别为95.0%和5.0%;VDR Fok I位点ff、Ff、FF基因型的分布频率分别为18.6%、52.0%、29.4%,f、F等位基因频率分别为55.8%和44.2%。结论深圳地区汉族儿童VDR Bsm I和VDR Fok I位点各基因型和等位基因的频率分布特征与已报道的上海、江苏地区差异有统计学意义。
Objective To understand the distribution of BsmⅠ and FokⅠ polymorphisms of vitamin D receptor (VDR) gene in children of Han nationality in Shenzhen, in order to improve the compliance of calcium supplementation in children and promote the growth and development of children. Methods The BsmⅠ and FokⅠ polymorphisms of VDR gene in 233 Han Chinese children in Shenzhen were detected by real-time PCR. The genotypes and allele frequency distributions were analyzed and compared with those reported in other regions. Results The frequencies of bb, Bb and BB genotypes in VDR Bsm I loci were 88.4% and 11.6%, respectively. The frequencies of 0, b and B alleles were 95.0% and 5.0%, respectively. The distribution frequency of Ff and FF genotypes were 18.6%, 52.0% and 29.4%, respectively. The frequencies of f and F alleles were 55.8% and 44.2% respectively. Conclusion The frequency distribution of genotypes and alleles of VDR Bsm I and VDR Fok I loci in Han children in Shenzhen area was significantly different from those reported in Shanghai and Jiangsu.