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.
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)
关键词
骨硬化症
基因突变
osteopetrosis
gene mutations
