耳硬化症发病机制的遗传学和分子生物学研究  

Genetic and Molecular Biology Research on the Pathogenesis of Otosclerosis

作　　者：高建军 段宏[1] GAO Jian-jun;DUAN Hong

机构地区：[1]内蒙古医科大学附属医院,呼和浩特010030

出　　处：《中国听力语言康复科学杂志》2024年第2期168-171,189,共5页Chinese Scientific Journal of Hearing and Speech Rehabilitation

摘　　要：耳硬化症是一种伴有外显率减少的常染色体显性疾病,近40%~50%临床病例是没有家族遗传病史的散发病例,是由遗传因素和环境因素共同作用的复杂的遗传性疾病。遗传因素包括分子途径(包括骨质重建、免疫途径、炎性因素、内分泌途径),这些因素对耳硬化症的发展起一定作用。Otosclerosis is an autosomal dominant disease with reduced penetrance,but approximately 40%-50%of clinical cases are sporadic without a family history of the disease.Many studies suggest that otosclerosis is a complex genetic disorder caused by the combined effects of genetic and environmental factors.Genetic factors include molecular pathways,such as bone remodeling,immune pathways,inflammatory factors,and endocrine pathways,which play a role in the development of otosclerosis.

关 键 词：耳硬化症 遗传学 分子生物学 

分 类 号：R764.9[医药卫生—耳鼻咽喉科]