| 成骨不全遗传学研究进展 |
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| 引用本文： | 任旋,陈慧,张秀德.成骨不全遗传学研究进展[J].中国全科医学,2012,15(8):946-948. |
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| 作者姓名： | 任旋 陈慧 张秀德 |
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| 作者单位： | 兰州大学第二医院内分泌科,甘肃省兰州市,730100 |
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| 摘 要： | 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。
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| 关 键 词： | 成骨不全 Ⅰ型胶原蛋白 基因突变 |
Advance of Genetics Studies on Osteogenesis Imperfecta |
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| REN Xuan
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CHEN Hui
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ZHANG Xiu-de.Advance of Genetics Studies on Osteogenesis Imperfecta[J].Chinese General Practice,2012,15(8):946-948. |
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| Authors: | REN Xuan CHEN Hui ZHANG Xiu-de |
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| Institution: | .Department of Endocrinology,the Second Lanzhou University Hospital,Lanzhou 730100,China |
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| Abstract: | Osteogenesis imperfecta is a hereditary systemic connective tissue diseases with encoding typeⅠcollagen gene(COL1A1 and COL1A2)mutation as the main pathogenic mechanism,which brings about typeⅠcollagen 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. |
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| Keywords: | Osteogenesis imperfecta TypeⅠcollagen Gene mutation |
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