SLC26A4基因突变在耳聋疾病中的作用

柴永川;杨涛;吴皓;

1:上海交通大学医学院附属新华医院耳鼻咽喉-头颈外科

2:上海交通大学耳科学研究所

摘要
<正>研究表明,大前庭水管综合征(enlargement of vestibular aqueduct,EVA)和Pendred综合征(pendrend syndrome,PS)的发病与SLC26A4基因密切相关。SLC26A4基因最先由Everett等[1]在一个PS家系中定位克隆,并被命名为PDS基因。后续研究发现该基因突变也可引起非综合征型聋(DFNB4)[2]。由于PDS基因与溶质蛋白家族SLC26其他成员的结构和功能类似,故PDS基因又重新命名为
关键词
基金项目(Foundation):
上海市科学技术委员会重大基金项目(08DZ1980100);上海市科学技术委员会基金项目(08XD1402900);上海市科学技术委员会重大基础研究项目(09DJ1400604)联合资助;; 国家自然科学基金面上项目(30971596);;
作者
柴永川;杨涛;吴皓;
参考文献

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柴永川杨涛吴皓