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目的了解福州地区绝经后妇女维生素D受体基因ApaI多态性的分布,探讨维生素D受体基因ApaI多态性与绝经后妇女骨密度的关系。方法用双能X线骨密度仪检测592例绝经后妇女的L2-4、股骨颈,大转子和Ward三角区骨密度,应用PCR-RFLP技术检测维生素D受体基因ApaI多态性。结果①维生素D受体基因型分布频率为AA型10.1%,aa型46.6%,Aa型43.2%。等位基因频率为A31.8%,a68.2%,基因型分布符合Hardy-Weinberg定律。②骨质疏松组与对照组基因型及等位基因分布频率差异均无显著性。③分析其基因型与骨密度的关系:AA、aa、Aa3种基因型在腰椎、股骨颈、大转子、Ward区4个部位骨密度均无显著性差异。结论维生索D受体基因ApaI多态性与骨密度间无关联,不能作为预测福州地区绝经后妇女发生骨质疏松危险性的遗传标志。
Objective To understand the distribution of vitamin D receptor gene ApaI polymorphism in postmenopausal women in Fuzhou and to explore the relationship between the ApaI polymorphism of vitamin D receptor gene and bone mineral density in postmenopausal women. Methods BMD of L2-4, femoral neck, greater trochanter and Ward triangle in 592 postmenopausal women were detected by dual-energy X-ray absorptiometry. ApaI polymorphism of vitamin D receptor gene was detected by PCR-RFLP. Results ① The frequencies of genotypes of vitamin D receptor were 10.1% in AA, 46.6% in aa and 43.2% in Aa. Allele frequency was A31.8%, a68.2%, genotype distribution in line with Hardy-Weinberg’s law. Osteoporosis group and control group genotypes and allele distribution frequency differences were not significant. ③Analysis of the relationship between genotypes and bone mineral density: There was no significant difference in BMD among 4 genotypes of AA, aa and Aa in lumbar spine, femoral neck, greater trochanter and Ward. Conclusion There is no correlation between ApaI polymorphism of vitamin D receptor gene and bone mineral density, which can not be used as a genetic marker to predict the risk of osteoporosis in postmenopausal women in Fuzhou.