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目的遗传因素是否参与维生素D缺乏性佝偻病目前尚未明了。拟通过研究维生素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缺乏性佝偻病儿童和78例正常儿童(对照组)维生素D受体(VDR)基因FokI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FokI位点基因型分布频率分别为:FF(37%),Ff(51%),ff(12%)和FF(18%),Ff(55%),ff(27%),两组之间的差异有显著性(χ20.01(2)=9.210,χ2=13.3880,P<0.01);佝偻病患儿和对照组儿童的VDR基因FokI位点等位基因分布频率分别为:F(63%),f(37%)和F(46%),f(54%),两组之间的差异有显著性(χ2=6.18,P<0.05)。佝偻病患儿F等位基因分布频率明显高于对照组人群(63%vs46%)两组之间的差异有显著性;而佝偻病患儿f等位基因频率显著低于对照组(37%vs 54%)。结论VDR基因FokI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有关。
Whether the purpose of genetic factors involved in vitamin D deficiency rickets is not yet clear. To investigate the relationship between vitamin D receptor gene polymorphism and vitamin D deficiency rickets susceptibility to explore the genetic susceptibility to vitamin D deficiency rickets. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the FokI site of vitamin D receptor (VDR) gene in 159 children with vitamin D deficiency rickets and 78 normal children (control group) The polymorphisms of VDR genotype and allele were compared between the two groups. Results The genotypes of FokI locus of VDR gene in children with vitamin D deficiency rickets and control children were FF (37%), Ff (51%), ff (12%) and FF (Χ20.01 (2) = 9.210, χ2 = 13.3880, P <0.01). In children with rickets and control group, the VDR gene FokI The frequency of allele distribution was (63%), f (37%), F (46%) and f (54%) respectively. There was significant difference between the two groups (χ2 = 6.18, P < 0.05). The frequency of F allele in children with rickets was significantly higher than that in the control group (63% vs 46%), but the frequency of f allele in children with rickets was significantly lower than that in the control group (37% vs 54 %). Conclusion The polymorphism of VDR gene FokI restriction site may be related to the genetic susceptibility to vitamin D deficiency rickets.