论文部分内容阅读
目的探讨维生素D受体(VDR)基因FokⅠ和BsmⅠ位点单核苷酸多态性在苏州地区儿童的分布及与25-羟维生素D[25-(OH)D]水平的相关性。方法随机抽取苏州地区汉族208例儿童作为研究对象,采用基因测序方法检测VDR基因FokⅠ和BsmⅠ位点的多态性,同时检测25-(OH)D的水平。结果 VDR基因FokⅠ位点FF、Ff和ff的分布频率分别为34.13%、53.85%和12.02%,BsmⅠ位点BB、Bb和bb的分布频率分别为0.96%、10.10%和88.94%。FF基因型25-(OH)D水平高于ff基因型(P<0.05),bb基因型25-(OH)D水平高于BB、Bb基因型(P<0.05)。结论苏州地区儿童基因FokⅠ和BsmⅠ位点具有多态性,与25-(OH)D水平存在相关性。
Objective To investigate the distribution of single nucleotide polymorphisms (SNPs) of Fok I and Bsm I in vitamin D receptor (VDR) gene in children in Suzhou district and its relationship with 25-hydroxyvitamin D [25- (OH) D]. Methods A total of 208 Han children in Suzhou district were randomly selected to study the polymorphisms of Fok I and Bsm I sites in VDR gene by gene sequencing and to detect the level of 25- (OH) D. Results The frequencies of FF, Ff and ff were 34.13%, 53.85% and 12.02% respectively at the Fok Ⅰ site of VDR gene. The BB, Bb and bb frequencies of BsmⅠ locus were 0.96%, 10.10% and 88.94%, respectively. FF genotype 25- (OH) D level was higher than ff genotype (P <0.05), bb genotype 25- (OH) D level was higher than BB, Bb genotype (P <0.05). Conclusion The Fok Ⅰ and Bsm Ⅰ loci in children in Suzhou are polymorphic and correlate with the level of 25- (OH) D.