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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: To investigate the relationship between vitamin D receptor gene polymorphism and osteoporosis. Methods: The VDR genes of 52 normal controls and 17 osteoporosis patients were genotyped by Polymerase Chain Reaction-restrictive Fragmentlength Polymorphism (PCR-RFLP) and their gene frequency distribution was calculated. Results: The bb, Bb and BB genotypes of VDR gene in normal control group were 94.23%, 5.77% and 0%, respectively. The osteoporosis group was 82.35%, 17.65% and 0% There was no significant difference between the various types. CONCLUSION: There is a racial difference in VDR gene polymorphism. There is no significant correlation between osteoporosis and BB genotypes in Chinese Han population.