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成骨不全分子遗传学研究进展 被引量：3

Advance of Genetic Studies on Osteogenesis lmperfecta
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摘要 成骨不全病(OMIM 166200)是一种常染色体显性遗传病,其临床表现以骨折及结缔组织异常为特征。90%以上病例的发生与形成Ⅰ型胶原的两个基因(COL1A1和COL1A2)突变有关。该病也存在遗传异质性。成骨不全的表型变异范围较广,临床分型复杂,且不同表型的分子机制也不同。现对该病的临床分型及分子遗传学研究进展作一综述。 Osteogenesis imperfecta（ OMIM 166200） is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue. Over 90% of patients with osteogenesis imperfecta have mutations in the COL1A1 and COL1A2 genes which encode the chains of type I procollagen. This disease has genetic heterogeneity. Clinical characteristics of osteogenesis imperfecta （0I） are variable and its clinical classification is complex. Different phenotypes may be involved different mechanism. Here, we generally summarize the clinical classification and progress of genetic studies on osteogenesis imperfecta.
作者 吴晓林 顾鸣敏 王铸钢
机构地区 上海交通大学医学院医学遗传学教研室
出处 《国际遗传学杂志》 CAS 2006年第4期286-289,302,共5页 International Journal of Genetics
基金 国家自然科学基金(No.30470951)
关键词 成骨不全 I型胶原 遗传异质性 Osteogenesis imperfecta Type I collagen Genetic heterogeneity
分类号 R681.1 [医药卫生—骨科学]
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参考文献18

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二级参考文献15

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国际遗传学杂志
2006年 第4期

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