摘要
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 explore the association between VDR and Vitamin D deficiency rickets in Han population of Yin- chuan. Methods Case control study was used in 119 patients with vitamin D deficiency rickets and in 198 normal children. Their gene polymorphisms of VDR were detected using fluorescence quantitative PCR. Results The frequency of the two genotypes were showed similar proportion between the children with Vitamin D deficiency rickets and control subjects, the two groups were no significant differ- ence （P 〉 0.05 ）. Conclusion The data demonstrate that the polymorphisms of VDR Bsm I and Fok I are not associated with Vitamin D deficiency rickets in Han population of Yinchuan, and the VDR polymorphism does not play a major role in the development of the rickets and the Bsm I and Fok I polymorphism in VDR may have different influences in various ethnic groups and diseases.
出处
《宁夏医学杂志》
CAS
2015年第12期1071-1073,共3页
Ningxia Medical Journal
