汉族人骨钙素基因多态性和骨质疏松的关系(英文)  

Relationship between osteocalcin gene polymorphism and osteoporosis in Han nationality

作　　者：吴青[1] 张红红[1] 刘建伟[1] 胡亚卓[1] 张京立[1] 陶国枢[1] 

机构地区：[1]解放军总医院老年医学研究所,北京市100853

出　　处：《中国临床康复》2004年第30期6806-6807,共2页Chinese Journal of Clinical Rehabilitation

基　　金：全军医药卫生科研基金"十五"计划项目(01MA118)~~

摘　　要：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 kinds of genes in different areas and different throng of peop le were studied by researchers such as vitamin D receptor gene,estrogen receptor gene,collagen typeⅠalpha 1 gene and bone content,but the results were greatly controversial,which indicated that bone content was controlled by multiple genes not by a single gene. OBJECTIVE:To discuss the distributing rule of osteocalcin(OC)genotype in Han nationality Chinese and the relationship between genotype and bone mineral cont ent,and to provide the theoretical basis for screening the relatively high risk population of osteoporosis. DESIGN:Non randomized control trial. SETTING,PARTICIPANTS and INTERVENTIONS:Totally 85 healthy volunteers of Han n ationality in Beijing city were selected as control group,excluding patients wit h acute or chronic disorders influencing bone metabolism and those taking drugs which have this kind of effect and detected by dual energy X ray absorptiometr y(DXA) provided by General Hospital of PLA.Among them there were 26 males and 59 females,mean age 45.78.Osteoporosis group,with mean age 52,including 12 postmen opausal women of Han nationality with bone mineral density(BMD)lower than 2.0 -2.5 s of peak BMD.OC genotypes in both groups were detected with polymerase ch ain reaction restriction fragment length polymorphism(PCR RFLP).The PCR prod ucts processed by a restriction endonuclease were separated by polyacrylamide ge l electrphorsis(PAGE) and were stained using acid silver stain method and the kn own length of DNA fragments was used.OC genotypes were determinated,according to references,as the related genotypes of endonuclease site,i.e.HH type lacked the endonuclease cleavage site(253 bp),heterozygous Hh type(253,232,21 bp) and hh t ype(232,21 bp) possessed the site. MAIN OUTCOME MEASURES:OC genotype was identified by Polymerase chain reaction( PCR) to analyze the distribution of OC genotype in Han nationality of China and the relationship between polymorphism of OC genotype and osteoporosis.OC

关 键 词：骨钙素 多态现象/遗传学 汉族 骨质疏松/遗传学 聚合酶链反应 

分 类 号：R681.4[医药卫生—骨科学]