耳硬化症的遗传学研究进展  

Advances in Genetic Study of Otosclerosis

作　　者：张永丽 杨华[1] ZHANG Yongli;YANG Hua(Peking Union Medical College,Chinese Academy of Medical Sciences and Peking Union Medical College Hospital,Beijing,China,100730)

机构地区：[1]北京协和医学院中国医学科学院北京协和医院,北京100730

出　　处：《中华耳科学杂志》2020年第5期962-966,共5页Chinese Journal of Otology

基　　金：北京市自然科学基金(No.7172176);国家自然科学基金(NO.81470698);国家重点研发计划(NO.2016YFA0101000,NO.2016YFA0101002)。

摘　　要：耳硬化症是一种以进行性听力下降为主要表现的骨迷路局灶性病变,其临床表现与骨迷路异常骨重塑有关。虽然目前耳硬化症的病因学尚未完全清楚,但是近年来遗传因素在耳硬化症中的作用得到越来越多的研究和报道。本文针对耳硬化症遗传学的研究进展进行综述。Otosclerosis is a type of focal osseous labyrinth disease characterized by progressive hearing loss.Its clinical manifestations are related to abnormal bone remodeling in the osseous labyrinth.Although the etiology of otosclerosis has not been fully understood,the roles of genetic factors in otosclerosis have been studied and reported in recent years.This article reviews the progress in otosclerosis-related genetic studies.

关 键 词：耳硬化症 骨迷路 常染色体显性遗传伴不完全外显 基因 

分 类 号：R764[医药卫生—耳鼻咽喉科]