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目的探讨维生素D受体基因多态性与维生素D缺乏性佝偻病遗传易感性的关系。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缺乏性佝偻病儿童和78例正常儿童(对照组)维生素D受体基因TaqⅠ酶切位点的多态性,比较两组之间维生素D受体基因型和基因频率。结果维生素D缺乏性佝偻病患儿和对照组儿童的维生素D受体基因TaqⅠ酶切位点基因型分布频率分别为:TT83.0%、Tt17.0%、tt0和TT87.2%、Tt12.8%、tt0,两组之间的差异无显著统计学意义(χ2=0.6876,P>0.05);维生素D缺乏性佝偻病患儿和对照组儿童的维生素D受体基因TaqⅠ酶切位点等位基因分布频率分别为:T91.5%、t8.5%和T93.6%、t6.4%,两组之间的差异无显著统计学意义(χ2=0.6294,P>0.05)。结论维生素D受体基因TaqⅠ酶切位点的多态性可能与维生素D缺乏性佝偻病的遗传易感性无关。
Objective To investigate the relationship between the polymorphism of vitamin D receptor gene and genetic susceptibility to vitamin D deficiency rickets. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the TaqⅠ site of vitamin D receptor gene in 159 children with vitamin D deficiency rickets and 78 normal children (control group) Polymorphism, vitamin D receptor genotypes and gene frequencies were compared between the two groups. Results The frequency distribution of Taq Ⅰ gene of vitamin D receptor gene in children with vitamin D deficiency rickets and control children were TT83.0%, Tt17.0%, tt0 and TT87.2%, Tt12.8 %, Tt0, the difference between the two groups was not statistically significant (χ2 = 0.6876, P> 0.05); vitamin D deficiency rickets in children and control children vitamin D receptor gene Taq Ⅰ restriction site alleles The distribution frequencies were T91.5%, t8.5% and T93.6%, t6.4%, respectively. There was no significant difference between the two groups (χ2 = 0.6294, P> 0.05). Conclusion The polymorphism of Taq Ⅰ site of vitamin D receptor gene may not be related to the genetic predisposition of vitamin D deficiency rickets.