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北京地区汉族人维生素D受体基因多态性分布
引用本文:赵金秀,刘国仰.北京地区汉族人维生素D受体基因多态性分布[J].中国医学科学院学报,1997,19(1):18-23.
作者姓名:赵金秀  刘国仰
作者单位:中国医学科学院中国协和医科大学协和医院!北京,100730,中国医学科学院中国协和医科大学协和医院!北京,100730,中国医学科学院中国协和医科大学基础医学研究所,中国医学科学院中国协和医科大学协和医院!北京,100730,中国医学科学院中国协和医科大学协和医院!北京,100730,中国医
基金项目:国家自然科学基金!39670794,中国医学科学院基金
摘    要:维生素D受体(VDR)基因是骨代谢遗传基础的候选基因之一。采用聚合酶链反应及限制性内切酶酶切技术和Southern杂交技术,对北京地区223名无血缘关系的健康汉族成人的VDR基因型进行分析。结果发现,中国人VDR基因多态性的分布频率以b、a、T等位基因为多,分别占95%、75%和95%,明显不同于高加索人种,与日本人也有一定差别,而与朝鲜人较为相似。

关 键 词:1,25-(OH)_2D_3受体  基因多态性

The Frequencies of the Vitamin D Receptor Gene Alleles in Adults of Han Nationality in Beijing Area
Zhao Jinxiu, Zhou Xueying, Liu Guoyang ,Meng Xunwu, Xing Xiaoping, et al.The Frequencies of the Vitamin D Receptor Gene Alleles in Adults of Han Nationality in Beijing Area[J].Acta Academiae Medicinae Sinicae,1997,19(1):18-23.
Authors:Zhao Jinxiu  Zhou Xueying  Liu Guoyang  Meng Xunwu  Xing Xiaoping  
Institution:PUMC Hospital, Beijing.
Abstract:Vitamin D receptor (VDR) gene is considered as one of candidate genes related to the genetic basis of bone and mineral metabolism. In order to determine VDR genotypes, we analysed the polymorphisms, or genotypes of Bsm I, Apa I, and Taq I restriction enzymes, by PCR technique in 223 unrelated healthy adults of Han nationality in Beijing area.Some of the VDR genotypes were also confirmed by Southern blotting analysis. We discovered that Chinese had high frequencies of b, a, T alleles, as high as 95%, 75%, and 95% respectively, which were different from those in Caucasians and Japanese, but similar to those in Koreans (P > 0. 05 ). This difference gave us further insight into the different pathogeny of osteoporosis in various ethnics.
Keywords:calcitriol receptor  gene polymorphism
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