Ikegawa Shiro
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Tokyo 108-8639, Japan.
J Hum Genet. 2006;51(7):581-6. doi: 10.1007/s10038-006-0401-x. Epub 2006 May 3.
Skeletal dysplasia is a group of disorders of the skeleton that result from derangement of growth, development and/or differentiation of the skeleton. Nearly 300 disorders are included; most of them are monogenic diseases. Responsible genes for skeletal dysplasia have been identified in more than 150 diseases mainly through positional cloning. Identification of disease genes would improve patient care through genetic diagnosis as well as improving our understanding of the diseases and molecular mechanism of skeletal tissue formation. Studies of skeletal dysplasia would also help identify disease genes for common diseases affecting bones and joints. In this study, the author reviews recent advances and the current status of the genetic analysis of skeletal dysplasia and its impacts on research into skeletal biology.
骨骼发育异常是一组骨骼疾病，由骨骼生长、发育和/或分化紊乱引起。其中包括近300种疾病；大多数是单基因疾病。主要通过定位克隆已在150多种疾病中鉴定出导致骨骼发育异常的相关基因。疾病基因的鉴定将通过基因诊断改善患者护理，同时增进我们对这些疾病以及骨骼组织形成分子机制的理解。对骨骼发育异常的研究也将有助于识别影响骨骼和关节的常见疾病的致病基因。在本研究中，作者综述了骨骼发育异常基因分析的最新进展和现状及其对骨骼生物学研究的影响。
