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背景:许多学者对不同人群、不同地区进行了多项遗传基因,如维生素D基因、雌激素受体基因、I型胶原基因与骨量的研究,但是结论差异较大,这提示骨量不是单个基因起作用,而是受多种基因的调控。目的:探讨中国汉族人骨钙素基因型的分布规律以及与骨量、骨代谢的关系,为筛选骨质疏松症相对高危人群提供理论依据。设计:非随机对照研究。地点、对象和干预:在北京市区汉族健康志愿者中,剔除患有影响骨代谢的急慢性疾病及用过影响骨代谢的药物者,选择经解放军总医院双能X线骨密度吸收仪(dual-energyX-rayabsorptiometry,DXA)检测,骨密度正常者85例(男26例,女59例)作为正常对照组,平均46岁。选择汉族绝经后妇女,腰椎骨密度低于峰值骨密度2.0～2.5标准差的12例为骨质疏松组,平均年龄52岁。分别对两组进行酶切产物分离及结果判定,用聚丙烯酰胺凝胶(polyacrylamidegelelectrphorsis,PAGE)酸性银染法分离及显像酶切产物,以DNA片段长度标准物为参考,观察结果并照相。骨钙素基因判定参照文献方法,即缺乏相应酶切位点为HH型(253bp)、Hh型(253,232,21bp)为杂合子、hh型(232,21bp)则代表存在相应酶切位点的基因型。主要观察指标:应用PCR扩增及酶切方法确定骨钙素基因;分析判定中国汉族人骨钙素基因型的分布情况,骨钙素基因?
Background: Many scholars have studied many genes in different populations and regions, such as vitamin D gene, estrogen receptor gene, type I collagen gene and bone mass, but the conclusions are quite different, suggesting that the bone mass is not a single Gene plays a role, but by a variety of genes. OBJECTIVE: To investigate the distribution of osteocalcin genotypes in Chinese Han population and its relationship with bone mass and bone metabolism, and to provide a theoretical basis for the screening of population with relatively high risk of osteoporosis. Design: Non-randomized controlled study. Location, Subjects and Interventions: In the Han volunteers in Beijing urban areas, excluding patients with acute and chronic diseases affecting bone metabolism and those who have used drugs that affect bone metabolism were selected by the People’s Liberation Army General Hospital dual-energy X-ray absorptiometry dual-energy X-ray absorptiometry (DXA) test, 85 patients with normal bone mineral density (26 males and 59 females) as a normal control group, average 46 years old. Select Han Chinese postmenopausal women, lumbar spine BMD less than 2.0 ~ 2.5 standard deviation of 12 cases of osteoporosis group, with an average age of 52 years. Respectively, the digestion products were separated and the results were judged. Polyacrylamide gel electrophoresis (PAGE) was used to separate and visualize the products. The DNA fragment length standards were used as reference, the results were observed and photographed. Osteocalcin gene determination reference literature method, the lack of the corresponding restriction sites for HH type (253bp), Hh type (253,232,21bp) for heterozygous, hh type (232,21bp) represents the presence of the corresponding restriction sites genotype. MAIN OUTCOME MEASURES: The osteocalcin gene was determined by PCR amplification and restriction enzyme digestion. The distribution of osteocalcin genotypes in Chinese Han population was analyzed. The osteocalcin gene