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目的探讨银川地区汉族儿童维生素D受体(VDR)基因Bsm I位点和Fok I位点的多态性与维生素D缺乏性佝偻病的相关性,研究银川地区儿童该病的遗传易感性。方法采用病例对照研究的方法,分别提取佝偻病患儿(病例组,119例)和健康儿童(对照组,198例)的口腔黏膜上皮细胞,利用荧光定量PCR技术检测VDR基因Bsm I位点和Fok I位点的单核苷酸多态性(SNPs)。结果银川地区儿童VDR基因Bsm I位点和Fok I位点基因型在2组间的分布差异无统计学意义(P>0.05)。结论银川地区汉族儿童VDR基因Bsm I位点和Fok I位点的SNPs与佝偻病发病生尚未发现有明确相关性,该位点的多态性对疾病的影响可能因种族的不同而存在差异。
Objective To investigate the association of vitamin B receptor (VDR) gene Bsm I site and Fok I polymorphism with vitamin D deficiency rickets in Yinchuan, and to study the genetic predisposition of this disease in Yinchuan children. Methods The oral mucosal epithelial cells of children with rickets (119 cases) and healthy children (control group, 198 cases) were extracted by case-control study. Fluorescent quantitative PCR was used to detect the Bsm I site of VDR gene and Fok I site single nucleotide polymorphisms (SNPs). Results There was no significant difference in the distribution of Bsm I site and Fok I genotype of VDR gene among children in Yinchuan (P> 0.05). Conclusion There is no clear correlation between the SNPs of Bsm I site and Fok I site of VDR gene in Yinchuan district and the pathogenesis of rickets in Han nationality. The polymorphism of this site may have different effects on the disease due to different ethnic groups.