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

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（Ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎ－ｒｅｓｔｒｉｃｔｉｖｅｆｒａｇｍｅｎｔｌｅｎｇｔｈｐｏｌｙｍｏｒｐｈｉｓｍ，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。

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.