骨形成相关基因及其遗传性疾病的研究进展  

Progress in the Study of Bone Formation-related Genes and Their Inherited Diseases

作　　者：陈馨怡 邓晔坤[2] 张靖晨 CHEN Xinyi;DENG Yekun;ZHANG Jingchen(Department of Stomatology,Soochow University,Suzhou,Jiangsu Province,215006 China;Department of Orthopedics,the Second Affiliated Hospital of Soochow University,Suzhou,Jiangsu Province,215006 China)

机构地区：[1]苏州大学口腔医学系,江苏苏州215006 [2]苏州大学附属第二医院骨科,江苏苏州215006

出　　处：《系统医学》2024年第4期180-183,共4页Systems Medicine

摘　　要：骨骼对人体具有重要意义,可发挥运动、保护和支撑等作用。骨的正常形成是一个复杂的过程,依赖于各种骨相关基因、转录因子和信号通路的参与和调控。因此,深入了解骨发育及其代谢等生理活动的分子机制至关重要。若发生基因突变导致调控异常,则可能发生遗传性骨病。因此,本文对骨形成的分子机制及遗传性骨病和相关基因进行综述,为骨相关疾病的诊断、治疗和预防提供更有效、更精确的策略。Bone is important to the human body,playing the roles of movement,protection and support.Normal bone formation is a complex process that depends on the participation and regulation of various bone-related genes,transcription factors and signaling pathways.Therefore,it is crucial to gain a deeper understanding of the molecular mechanisms underlying physiological activities such as bone development and its metabolism.Inherited bone diseases may occur if mutations in the genes lead to abnormal regulation.Therefore,this paper provides an overview of the molecular mechanisms of bone formation and hereditary bone diseases and related genes,in order to provide a more effective and precise strategy for the diagnosis,treatment and prevention of bone-related diseases.

关 键 词：骨骼 骨形成 遗传性骨病 调控基因 

分 类 号：R4[医药卫生—临床医学]