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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 investigate the association between vitamin D receptor gene polymorphism and the susceptibility to vitamin D deficiency rickets and to explore the genetic susceptibility of vitamin D deficiency rickets. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of ApaI site in 159 cases of vitamin D deficiency rickets and 78 normal children. VDR Genotype and allele frequency. Results The genotype frequency of ApaI in VDR gene in children with vitamin D deficiency rickets and control children were AA (10%), Aa (46%), aa (44%) and AA (6%), Aa 35%) and aa (59%). There was no significant difference between the two groups (χ02.05 (2) = 5.991, χ2 = 4.7933, χ2 <χ02.05 The frequencies of allele ApaI in children with D deficiency and control children were A (33%), A (67%) and A (24%), and a (76%) respectively The difference was not statistically significant (χ2 = 2.07, P> 0.05). Conclusion The polymorphism of Vpa gene ApaI restriction site may not be associated with the pathogenesis of vitamin D deficiency rickets.