【作者】 卢华君；

【导师】 李海林； 郝萍；

【作者基本信息】 昆明医学院 ， 儿科学， 2003， 硕士

【摘要】 目的 通过研究维生素D受体(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 利用限制性内切酶Fok Ⅰ，应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析、基因测序等技术测定48例维生素D缺乏性佝偻病患儿(病例组)和92名正常儿童(对照组)的VDR基因起始密码子多态性，比较两组VDR基因型和等位基因的分布频率，并计算基因型优势比(OR)。结果 在48例佝偻病患儿中FF、Ff和ff基因型分布频率分别为46％、33％和21％；而在92名正常儿童中FF、Ff和ff基因型分布频率分别为22％、52％和26％。两组VDR基因型的分布频率差异有显著性(x~2=8.912，P=0.012)，病例组中FF基因型占明显优势(OR=3.046)。两组VDR基因等位基因的分布频率差异也有显著性(x~2=5.451，P=0.020)，病例组中F等位基因分布频率高于对照组。结论 VDR基因起始密码子多态性与维生素D缺乏性佝偻病有相关性，提示VDR基因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。更多还原

【Abstract】 Objective To detect the association betweenvitamin D receptor (VDR) gene start codon polymorphism and nutritional rickets. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), gene sequence and genetic analysis methods were used. A restriction fragment length polymorphism in the start codon of vitamin D receptor gene (Fok I) was tested for association with nutritional rickets risk in 48 children with active nutritional rickets and 92 subjects representative of the community from which the rachitic children came. Results Frequencies of FF, Ff and ff genotype are 46%, 33% and 21% in the rickets group, and 22%, 52% and 26% in the control group respectively. A significant difference is found in the frequency distribution of VDR genotype between twogroups(x2=8.912,p=0.012). the FF genotype in nutritional rickets group was more common than control (OR=3.046).indicating that FF genotype is significant associated with nutritional rickets. Moreover, VDR allele frequencies of Fok I polymorphism also showed significant difference between two groups (x2=5.451, p=0.020). Conclusion there is association between vitamin D receptor gene start codon polymorphism and nutritional rickets. This study raise the possibility that VDR gene polymorphism might be important in determining an individual’s susceptibility to developing rickets.更多还原