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目的研究维生素D受体(VDR)基因BsmI多态性分布,以及与维生素D缺乏性佝偻病的关系,探讨其遗传易感性。方法对象为41例维生素D缺乏性佝偻病患儿和68例健康对照组儿童,均为山西籍汉族儿童,应用聚合酶链反应限制性片段长度多态性分析(PCRRFLP)等技术测定VDR基因BsmI多态性,比较两组基因型和等位基因的分布频率,并用HardyWeinberg遗传平衡检验方法进行基因分布遗传平衡吻合度检验。结果佝偻病患儿组Bb、bb基因型分布频率分别为14.6%和85.4%,健康对照组儿童Bb、bb基因型分布频率分别为19.1%、80.9%。病例组等位基因B、b分布频率分别为7.35%、92.7%,对照组等位基因B、b分布频率分别为9.6%、90.4%,佝偻病组和正常对照组VDR基因型Bb、bb分布频率和等位基因分布频率间没有显著性差异。BsmI多态性分布极不平衡,bb型最多占80.9%,b位点占90.4%,是优势基因。结论VDR基因BsmI酶切位点多态性与维生素D缺乏性佝偻病发病无明显相关性。
Objective To study the distribution of BsmI polymorphism of vitamin D receptor (VDR) gene and the relationship with vitamin D deficiency rickets and to explore its genetic predisposition. Methods: Forty-one children with vitamin D deficiency rickets and 68 healthy controls were Chinese Han children from Shanxi Province. PCR-RFLP was used to detect the BsmI of VDR gene The frequencies of genotypes and alleles in the two groups were compared. HardyWeinberg genetic equilibrium test was used to test the genetic balance of genetic distribution. Results The frequencies of Bb and bb genotypes in children with rickets were 14.6% and 85.4%, respectively. The frequencies of Bb and bb genotypes in children with rickets were 19.1% and 80.9%, respectively. The frequencies of B and B alleles in case group were 7.35% and 92.7%, respectively. The frequencies of B and B alleles in control group were 9.6% and 90.4% respectively. The frequencies of Bb and Bb in patients with rickets and normal controls There was no significant difference between the frequencies of alleles and alleles. BsmI polymorphism distribution is extremely unbalanced, bb type accounted for up to 80.9%, b site accounted for 90.4%, is the dominant gene. Conclusion There is no significant correlation between the BsmI restriction site polymorphism of VDR gene and the incidence of vitamin D deficiency rickets.