常染色体隐性遗传性成骨不全症的分子遗传学研究进展

成骨不全症(osteogenesis imperfecta,OI)又称脆骨症,由于遗传缺陷而引起Ⅰ型胶原结构或功能异常,表现为全身骨骼等结缔组织异常.临床特点是多发性骨折,同时可伴有巨头畸形、蓝巩膜、耳聋、牙齿改变和脊柱后侧凸等.成骨不全症不仪临床表型变异度大,而且遗传异质性高,以常染色体显件或隐性遗传方式传递,本文就常染色体隐性遗传性成骨不全症的分子遗传学研究进展加以综述.

Advances on molecular genetics of autosomal recessive osteogenesis imperfecta

Osteogenesis imperfecta (OI) , also known as brittle bone disease, is a genetic disorder of connective tissue caused by structural or functional abnormality of type I collagen. OI is characterized by multiple bone fractures. Affected individuals may also have macrocephaly, blue sclerae,hearing loss, dentinogene-sis imperfecta, and kyphoscoliosis. OI shows marked clinical variability and genetic heterogeneity, and both autosomal dominant and recessive forms exist. In this paper, we will review the recent progress in molecular genetics of the autosomal recessive OI.