成骨不全症的分子遗传学  

Molecular genetics of osteogenesis imperfecta

作　　者：刘怡[1] 李梅[1] 

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院内分泌科,卫生部内分泌重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2013年第4期343-348,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(81100623);国家临床重点专科资助项目(WBYZ2011873)

摘　　要：成骨不全症又称为脆骨病,是一种以骨骼脆性增加和骨量减少为特征的遗传性疾病。临床表现为反复骨折、蓝色巩膜、听力障碍、牙本质发育不良等。常染色体显性遗传成骨不全主要与骨基质蛋白Ⅰ型胶原合成障碍有关,而常染色体隐性遗传的成骨不全多与Ⅰ型胶原翻译后修饰或钙稳态相关,本文就成骨不全症的分子遗传学进展进行综述。Osteogenesis imperfect （OI）, also named brittle bone disease, is an inherited connective tissue dis- order characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mainly include multi- ple fractures, blue sclera, hearing loss, dentinogenesis imperfect. Autosomal dominant OI is caused by primary defects in type I collagen, while autosomal recessive OI is related to deficiency of proteins that interact with post-translational modifi- cation of type I procollagen or calcium homeostasis. Therefore, we review the molecular genetics progress Of 0I.

关 键 词：成骨不全 Ⅰ型胶原 翻译后修饰 骨稳态 

分 类 号：R681[医药卫生—骨科学]