维生素D缺乏性佝偻病遗传易感性的研究

Study on the association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets

目的研究维生素D受体基因多态性与维生素D缺乏性佝偻病易感性的相关性,探讨维生素D缺乏性佝偻病的遗传易感性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测159例维生素D缺乏性佝偻病和78例正常儿童VDR基因ApaI位点的多态性,比较两组之间VDR基因型和等位基因的频率。结果维生素D缺乏性佝偻病患儿和对照组儿童的VDR基因ApaI位点基因型分布频率分别为AA(10%),Aa(46%),aa(44%)和AA(6%),Aa(35%),aa(59%),两组之间的差异无显著统计学意义(χ02.05(2)=5.991,χ2=4.7933,χ2<χ02.05(2),P>0.05);维生素D缺乏性佝偻病患儿和对照组儿童的VDR基因ApaI位点等位基因分布频率分别为A(33%)、a(67%)和A(24%)、a(76%)两组之间的差异无显著统计学意义(χ2=2.07,P>0.05)。结论VDR基因ApaI酶切位点的多态性与维生素D缺乏性佝偻病的发病可能无关联。

Objective： To explore the genetic susceptibility of children to develop vitamin D deficiency rickets through studying the associations between VDR gene polymorphism and vitamin D deficiency rickets.. Methods： 159 newly active vitamin D deficiency rickets children aged 0 to 2 years （ 100 boys and 59 girls） were enrolled from a community of Jiamusi city, Heilongjiang province. 78 well children with the same age （46 boys and 32 girls） were chosen as the control. VDR gene polymorphism （cleaved by restriction endonuclease of ApaI） was analyzed by polymerase chase reaction -restriction fragment length polymorphism （PCR- RFLP） , DNA sequence analysis and genetic analysis. Results： Frequencies of AA, Aa and aa genotypes were 10% , 46% and 44% in the rickets group, and 6%, 35% and 59% in the control group, respectively. Frequencies of A, a alleles were 33% , 67% in the tickets group and 24% , 76% in the control group, respectively. No significant difference was found in either the frequency distribution of this VDR genotype or this allele （ A or a） between two groups. Conclusion： VDR gene polymorphism Apal doesnl appear to pose risk on children in developing vitamin D deficiency rickets.