维生素D受体基因多态性和骨质疏松关系的初步研究

Preliminary studies on the relationship between vitamin D receptor gene polymorphism and osteoporosis

摘要: 目的：探讨维生素D受体基因多态性与骨质疏松的关系。方法：采用聚合酶反应限制性片段长度多态性（Polymerase chain reaction-restrictive fragment length polymorphism，PCR-RFLP）技术对52例正常对照者和17例骨质疏松患者的VDR基因进行分型，并计算其基因频率分布。结果：正常对照组VDR基因bb、Bb、BB基因型分别为94.23%、5.77%、0%；骨质疏松组分别为82.35%、17.65%、0%，两组各型均无显著性差异。结论：VDR基因多态性具有种族差异性，就目前调查例数而言，中国汉族人骨质疏松与BB基因型无明显相关性。

Abstract: Objective:Vitamin D receptor（VDR） gene polymorphism and osteoporosis were studied.Methods:The polymerase chain reaction-restriction fragment length polymorphism was used to detect VDR genotype in 52 controls and 17 osteoporosis patients. The genotype frequencies of VDR were calculation later with Hardy-Weinberg equilibrium formula.Results:The results showed that the prevalence of the bb, Bb, and BB genotype in the controls was 94.23%, 5.7%, and 0%, respectively. The respective fingres were 82.35%, 17.65%. and 0% for patients with osteoporosis.Conclusion:It suggests that there was no association between VDR genotype and osteoporosis.