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目的探讨内蒙古地区蒙古族男性雌激素受体a(estrogen receptor,ER)基因多态性与骨密度(BMD)的关系。方法采用PCR-限制性片段长度多态性检测500名无血缘关系的蒙古族健康男性ER-a基因XbaⅠ和PvuⅡ多态性,结合双能X线吸收仪检查腰椎(L2-L4)和股骨近端股骨颈(femoral neck)、大转子区(trochanter)和Ward三角部位BMD。结果本研究人群XbaⅠ和PvuⅡ等位基因频率分布符合Hardy-Weinberg定律。PvuⅡ多态性与腰椎(L2-L4)和Ward三角部位BMD值均有相关性(P<0.05),而XbaⅠ多态性与各部位BMD值均无相关性;PP基因型在上述部位平均BMD值明显高于Pp和pp基因型(P<0.05)。结论本研究结果提示ER-a基因PvuⅡ多态性直接影响蒙古族男性松质骨的骨峰值。
Objective To investigate the relationship between estrogen receptor (ER) gene polymorphism and bone mineral density (BMD) in Mongolian nationality in Inner Mongolia. Methods The genotypes of Xba Ⅰ and Pvu Ⅱ were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 500 unrelated Mongolian healthy men and the dual-energy X-ray absorptiometry was used to examine the expressions of lumbar spine (L2-L4) Femoral neck, trochanter and Ward triangle BMD. Results The frequency distribution of XbaⅠ and PvuⅡ alleles in this study was in accordance with Hardy-Weinberg’s law. The Pvu Ⅱ polymorphism was associated with the BMD of lumbar (L2-L4) and Ward triangle (P <0.05), while the Xba Ⅰ polymorphism had no correlation with the BMD of each site. The average BMD of PP genotype Values were significantly higher than Pp and pp genotypes (P <0.05). Conclusion The results suggest that the Pvu Ⅱ polymorphism of ER-a gene directly affects the peak bone mass of Mongolian male cancellous bone.