我国四种民族维生素D受体基因多态性分布的研究

目的 维生素D受体（VDR）基因与骨密度和骨量密切相关。但是它在不同人群和种族中的分布仍有差异。本研究旨在分析中国汉族、维吾尔族、哈萨克族和蒙古族维生素D受体基因多态性分布。方法 应用聚合酶链反应限制性片长度多态性技术，分别对我国179名汉族、122名维吾尔族、63名哈萨克族和112名蒙古族健康绝经后妇女的VDR基因型进行分型，并计算其基因频率分布。结果 汉族、维吾尔族、哈萨克族和蒙古族绝经后妇女bb基因型频率分别为90．5％、69．67％、38．1％和50％，上述四种民族BB基因型频率分别为0％、4．1％、6．35％和4．46％，汉族与维吾尔族、哈萨克族和蒙古族之间VDR基因型频率分布比较，差异有非常显著性（P〈0．001），哈萨克族与欧美人种比较，VDR基因型相差不显著。结论 我国汉族与维吾尔族、哈萨克族和蒙古族之间VDR基因型多态性具有种族差异性，这种种族差异性与骨质疏松的相关性有待于进一步研究。

Studies on the distribution of vitamin D receptor gene polymorphism in Han, Uygur, Kazak and Mongoloid nationality in China

Objective To determine the distribution of vitamin D receptor gene polymorphism in women of Han, Uygnr, Kazak and Mongoloid nationality in China. Methods Polymorphism defined by the Bsml restriction enzyme using polymerase chain reaction-restriction fragment length polymorphism in healthy postmenopausal women of 179 Han nationality, 122 Uygur nationality, 63 Kazak nationality and 112 Mongoloid nationality. The genotype frequencies of the VDR were calculated later using the Hardy-Weinberg equilibrium formula. Results For women of Han, Uygur, Kazak and Mongoloid national, the BB genotypes accounted for 0 %, 4.1%, 6.35 % and 4.46 %, the bb genotypes accounted for 90.5 %, 69.67 %, 38.1% and 50% respectively. We found that was a significant difference between women of Han, Uygur, Kazak, and Mongoloid nationality. Compared to Caucasian population, there was no significant in VDR gene in Kazak nationality. Conclusions There was a significant difference between women of Han and Uygur, Kazak, and Mongoloid nationality in VDR genotype. The present study provide further evidence on the different pathogeny of osteoporosis in various ethnic groups.