ABCC1基因突变谱及其在非综合征型耳聋中的研究进展  

Spectrum of ABCC1 Gene Mutations and Their Roles in Non-syndromic Deafness

作　　者：周诗玉 李云龙 ZHOU Shiyu;LI Yunlong(Meicical School&Affiliated Hospital,Kunming University of Science and Technology,Kunming 650500,China)

机构地区：[1]昆明理工大学医学院&附属医院,昆明650500 [2]云南省第一人民医院医学遗传科,云南省第一人民医院国家卫生健康委西部孕前优生重点实验室

出　　处：《中华耳科学杂志》2024年第2期343-346,共4页Chinese Journal of Otology

基　　金：国家自然科学基金地区科学基金(81860190);云南省“万人计划”青年拔尖人才专项资助(YNWR-QNBJ-2018-128)。

摘　　要：ABCC1基因首次被提出为遗传性耳聋的致病基因,主要导致非综合征型耳聋。ABCC1基因编码MRP1,在血-迷路屏障中参与物质转运、外排和维持内耳迷路微环境稳定的作用。然而ABCC1在内耳中的功能及致病机制等仍未完全阐明。故我们对ABCC1基因在遗传性耳聋中的研究现状进行综述,以期能为ABCC1基因的研究提供新的参考。The ABCC1 gene was first proposed as a pathogenic gene in hereditary deafness,mainly causing nonsyndromic deafness.The ABCC1 gene encodes multidrug resistance-associated protein 1,which is involved in substance transport and effection across the blood-labyrinthian barrier.It maintains the stability of the labyrinthine microenvironment in the inner ear.However,the function of ABCC1 and its roles in pathogenesis in inner ear disorders have not been fully elucidated.This paper reviews the progress of research on the ABCC1 gene in hereditary deafness to provide a new basis for the research on the ABCC1 gene.

关 键 词：ABCC1基因 遗传性耳聋 血-迷路屏障 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]