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目的分析内蒙古自治区蒙族和汉族维生素D受体(VDR)基因多态性分布,为进一步观察蒙族和汉族VDR基因多态性与骨密度和骨质疏松相关性提供依据。方法取全血20 mL,经典法提取基因组DNA。应用聚合酶链反应限制性片段长度多态性技术,分别对内蒙古自治区30名汉族和30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。采用美国GE公司生产的LUNAR—Bravo双能X线骨密度仪进行骨密度测定。结果按Hardy-Weinberg遗传平衡定律计算,汉族bb、Bb基因型频率分布分别为90.5%、9.5%,未见BB型。蒙古族bb、Bb、BB型基因型频率分布分别为50.0%、45.5%、4.5%。汉族和蒙古族之间基因型频率分布差异有统计学意义(P<0.001)。结论内蒙古自治区蒙族和汉族之间VDR基因多态性具有种族差异性,其与骨质疏松相关性有待进一步研究。
Objective To analyze the distribution of vitamin D receptor (VDR) gene in Mongolian and Han nationality in Inner Mongolia, and to provide basis for further study on the relationship between VDR gene polymorphism and bone mineral density and osteoporosis in Mongolian and Han nationality. Methods Take 20 mL of whole blood and extract genomic DNA by classical method. VDR genotypes of 30 Han and 30 Mongolian healthy postmenopausal women in Inner Mongolia Autonomous Region were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and their gene frequency distribution was calculated. The bone mineral density (BMD) was measured by LUNAR-Bravo dual-energy X-ray absorptiometry. Results According to the Hardy-Weinberg law of genetic balance, the frequencies of bb and Bb genotypes in Han were 90.5% and 9.5%, respectively. No BB genotype was found. Mongolian bb, Bb, BB genotype frequency distribution were 50.0%, 45.5%, 4.5%. There was significant difference in genotype frequency between Han and Mongolian (P <0.001). Conclusion There is a racial difference in the VDR gene polymorphism between Mongolian and Han nationality in Inner Mongolia Autonomous Region. The correlation between VDR gene and osteoporosis remains to be further studied.