成骨不全遗传学研究进展

Advance of Genetics Studies on Osteogenesis Imperfecta

成骨不全是一种遗传性全身结缔组织疾病,以编码Ⅰ型胶原蛋白的基因(COL1A1和COL1A2)突变为主要致病机制,导致Ⅰ型胶原合成障碍,骨脆性增加。本文就成骨不全的临床分型、分子遗传学及治疗进展做一综述。

Osteogenesis imperfecta is a hereditary systemic connective tissue diseases with encoding type Ⅰ collagen gene （COL1A1 and COL1A2） mutation as the main pathogenic mechanism, which brings about type I collagen disorders, bone fragility. In this paper, we briefly reviewed the clinical type of osteogenesis imperfecta, the advances in molecular genetics and the treatment for the disease.