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目的研究维生素D受体(vitaminDreceptor,VDR)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因素。方法应用聚合酶链反应-限制性片段长度多态性分析及基因测序等技术测定34例维生素D缺乏性佝偻病患儿和52名正常儿童的VDR基因多态性,比较两组VDR基因型和等位基因频率。结果在病例组和对照组中AA、Aa、aa基因型频率分别为17.6%、50.0%、32.4%和7.7%、28.8%、63.5%,A、a等位基因频率分别为42.6%、57.4%和22.1%、77.9%。两组AA、Aa、aa基因型频率差异有统计学意义(χ2=8.113,P=0.017),两组A和a等位基因频率的差异也有统计学意义(χ2=8.217,P=0.004),佝偻病组中A等位基因频率高于对照组。结论VDR基因Apa酶切位点多态性与维生素D缺乏性佝偻病存在相关性,携带A等位基因的个体存在对佝偻病的易感性,提示VDR基因Apa酶切位点多态性可能在决定个体维生素D缺乏性佝偻病遗传易感性方面有重要作用。
Objective To investigate the relationship between vitamin D receptor (VDR) gene polymorphism and the susceptibility to vitamin D deficiency rickets and to explore the genetic susceptibility to vitamin D deficiency rickets. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and gene sequencing were used to determine the VDR gene polymorphism in 34 children with vitamin D deficiency rickets and 52 normal children. VDR genotypes were compared between the two groups Bit gene frequency. Results The genotype frequency of AA, Aa and aa were 17.6%, 50.0%, 32.4% and 7.7%, 28.8% and 63.5% respectively in the case group and the control group. The frequencies of the A and a alleles were 42.6% and 57.4% And 22.1% and 77.9% respectively. There was significant difference in genotype frequency of AA, Aa and aa between the two groups (χ2 = 8.113, P = 0.017). There was also a significant difference in the frequencies of A and a alleles between the two groups (χ2 = 8.217, P = 0.004) The frequency of A allele in rickets group was higher than that in control group. Conclusion There is a correlation between polymorphism of Apa site of VDR gene and vitamin D deficiency rickets. Individuals carrying A allele are susceptible to rickets, suggesting that Apa site polymorphism of VDR gene may be involved in determining the individual Vitamin D deficiency rickets has an important genetic predisposition.