骨硬化症致病基因研究进展  

Progress in the virulence genes of osteopetrosis

作　　者：柯耀华[1] 章振林[1] 

机构地区：[1]上海交通大学附属第六人民医院骨质疏松科与骨病科、骨代谢病和遗传研究室,上海200233

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2010年第2期122-127,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(30771019,30570819,30800387);上海市优秀学科带头人计划(08XD1403000)

摘　　要：骨硬化症(osteopetrosis)是一种以骨密度增高、破骨细胞缺乏或功能缺陷导致骨吸收障碍为特点的代谢性骨病,可分为常染色体隐性遗传(autosomal recessive osteopetrosis,ARO)和常染色体显性遗传(autosomal dominant osteopetrosis,ADO)。近年来,越来越多的骨硬化症相关致病基因被发现,本文就有关进展作一综述。Osteopetrosis is a metabolic bone disease characterized by high-bone mineral density and defect in bone resorption. The deficit could arise either from failure in osteoclast differentiation or from inability to perform resorption by mature, muhinucleated, but nonfunctional cells. Genetically, it is classified in two forms with autosomal recessive （ARO） and autosomal dominant （ADO）. Recently, more and more genes were identified in human osteopetrosis. This article reviews the progress of identification of its gene mutations.

关 键 词：骨硬化症 基因突变 

分 类 号：R681[医药卫生—骨科学]