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目的观察维生素D受体(VDR)基因多态性与维生素D缺乏性佝偻病的关系,探讨维生素D缺乏性佝偻病的遗传因素。方法选择确诊的佝偻病患儿40例和健康体检的婴幼儿50例,采用聚合酶链反应-限制性内切酶多态性分析技术检测VDR基因多态性。结果佝偻病组Bb和bb基因型分布频率分别为62.5%和35.0%,健康对照组分别为18.0%和82.0%;佝偻病组等位基因B和b分布频率为33.8%和66.2%,健康对照组分别为9.0%和91.0%;佝偻病组和健康对照组Bb和bb基因型分布频率和等位基因分布频率间差异均有显著性(均P<0.05)。结论VDR基因多态性与维生素D缺乏性佝偻病有相关性,提示VDR基因多态性可能是佝偻病患儿难于治疗的原因之一。
Objective To investigate the relationship between vitamin D receptor (VDR) gene polymorphism and vitamin D deficiency rickets, and explore the genetic factors of vitamin D deficiency rickets. Methods Forty patients with rickets and 50 infants and toddlers diagnosed by physical examination were selected. VDR gene polymorphism was detected by polymerase chain reaction-restriction endonuclease polymorphism analysis. Results The distribution frequency of Bb and bb genotypes were 62.5% and 35.0% in rickets group and 18.0% and 82.0% in healthy control group respectively. The distribution frequency of allele B and b in rickets group was 33.8% and 66.2% respectively. In healthy control group, Were 9.0% and 91.0%, respectively. There was significant difference in genotype distribution frequency and allele distribution frequency between the rickets group and the healthy control group (all P <0.05). Conclusion VDR gene polymorphism is associated with vitamin D deficiency rickets, suggesting that VDR gene polymorphism may be one of the reasons that children with rickets are difficult to treat.