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佝偻病维生素D受体基因多态性与25-羟维生素D3相关性
Study on Correlation between Vitamin D Receptor Genetic Polymorphism and 25-hydroxyvitamin D in Rickets
【作者】 弓毅谷；
【导师】 李宇宁；
【作者基本信息】 兰州大学 ， 儿科学， 2010， 硕士
【摘要】 目的研究1-3岁佝偻病患儿中维生素D受体基因多态性FokⅠ位点与佝偻病相关性,初步探讨维生素D受体基因多态性FokⅠ位点在佝偻病发病中所起的作用。方法病例组(佝偻病患儿)62例与对照组(正常健康儿童)60例,用ELISA方法检测血清25-羟维生素D3水平,比较两组之间血清25-羟维生素D3水平。用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)检测病例组和对照组维生素D受体基因多态性FokⅠ位点,比较两组之间基因型和等位基因分布频率。结果病例组血清25-羟维生素D3,水平较对照组明显降低,差异有统计学意义(t=-6.696,P<0.05)。维生素D受体基因多态性FokⅠ位点病例组FF基因型明显高于对照组(53.2% vs 25%),基因型分布频率差异有统计学意义(χ2=10.221,P<0.05),病例组F等位基因频率明显高于对照组(73.4%vs 56.7%),等位基因分布频率(χ2=7.511,P<0.05)差异有统计学意义。结论维生素D受体基因多态性FokⅠ位点与佝偻病有相关性,提示其在佝偻病遗传易感性方面起重要作用。
【Abstract】 Objective To study the correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets in children of 1-3 year old, and to explore the significance of hereditary factors in the development of vitamin D deficiency rickets.Methods This was a case control study. The subjects were composed of two groups, the patient group consisted of 62 children with vitamin D deficiency rickets, the control group was composed of 60 healthy children. The level of 25-hydroxyvitamin D3 in both groups was analyzed by Enzyme-Linked Immunosorbnent Assay (ELISA). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genetic analysis method was used. A restriction fragment length polymorphism in the vitamin D receptor genetic polymorphism FokⅠwas tested in both groups. The frequencies of the vitamin D receptor genotype and allele were compared between the two groups.Results There was a significant difference in the serum 25-hydroxyvitamin D3 between two groups (t=-6.696, P<0.05). The FF genotype and F allele were more common in patient group than in control group, respectively, There was a significant difference in the frequency distribution of vitamin D receptor genotype and allelic genes between two groups (x2= 10.221, P<0.05;x2= 7.511, P<0.05).Conclusion There is a correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets. This study suggested the possibility that vitamin D receptor genetic polymorphism might be important in determining susceptibility to development of vitamin D deficiency rickets.