SLC26A4基因与前庭导水管扩大综合征相关性研究  

Study on the Correlation between SlC26A4 Gene and Large Vestibular Aqueduct Syndrome

作　　者：范建辉[1,2] 薛希均[2] 

机构地区：[1]昆明医学院昆明总医院临床学院,昆明650031 [2]成都军区昆明总医院耳鼻咽喉-头颈外科,昆明650031

出　　处：《医学综述》2010年第13期1924-1926,共3页Medical Recapitulate

基　　金：国家自然科学基金青年项目(30801285);北京市科技新星计划B类(2009B34)

摘　　要：近十年来的国内外研究证实,由SLC26A4基因突变引起的前庭导水管扩大是常见的致聋的先天性疾病。随着基因诊断技术的发展,越来越多的前庭导水管扩大病例被证实与SLC26A4基因突变有关。现就SLC26A4基因与前庭导水管扩大综合征相关性研究现状及其基因筛查的意义予以综述。Researches in the last ten years show that the enlargement of vestibular aqueduct（ EVA） is a very common congenital disease leading to hearing loss caused by the mutations in SLC26A4 gene. More and more EVA patients have been identified to be related with SLC26A4 mutations,with the development of gene test. The correlations between SLC26A4 gene and EVA and gene test is summarized in this article.

关 键 词：SLC26A4基因 前庭导水管扩大 感音神经性聋 基因筛查 

分 类 号：R764[医药卫生—耳鼻咽喉科]