国人前庭水管扩大患者SLC26A4基因的特异性突变

Specificity of SLC26A4 Mutations in Chinese Patients with Enlarged Vestibular Aqueduct

赵亚丽;李庆忠;翟所强;兰兰;袁虎;王秋菊;

1:解放军总医院耳鼻咽喉-头颈外科

2:解放军总医院耳鼻咽喉-头颈外科

3:解放军总医院耳鼻咽喉-头颈外科

4:解放军总医院耳鼻咽喉-头颈外科

摘要
目的探讨SLC26A4基因与前庭水管扩大(enlarged vestibular aqueduct,EVA)的关系及其在中国人群EVA患者中突变的频率及分布情况,为相关基因的筛查及临床应用奠定基础。方法采集中国人群中的38例EVA核心家系,提取基因组DNA,应用聚合酶链反应(PCR)的方法扩增SLC26A4基因的21个外显子,纯化PCR产物后直接测序,使用DNAStar及Bioedit序列比对软件分析SLC26A4基因的突变位点。结果35例EVA核心家系的SLC26A4基因发生了突变,所占比例约为92.1%(35/38)。在发现的12种突变类型中,6种为新的突变类型(待发表),其余类型国际上已见报道:分别为IVS7-2A>G、L676Q、H723R、IVS15+5G>A、R409H和M147V。在所有的突变中,IVS7-2A>G突变的发生率最高,约为81.6%(31/38)。结论中国人群的EVA患者中存在SLC26A4基因的多种突变类型,其中IVS7-2A>G突变的发生率最高(81.6%),应视为特异性热点突变,建议在中国人群进行SLC26A4基因的突变热点的普遍筛查,降低EVA患儿的出生率。
关键词
前庭水管扩大;SLC26A4;基因突变
基金项目(Foundation):
国家自然基金面上项目(编号30370782&30470956);; 北京市重大科技专项子课题(编号H020220020610);; 高等学校全国优秀博士学位论文作者专项资金资助项目(编号200463);; “863”计划滚动项目(编号2004AA221080)资助
作者
赵亚丽;李庆忠;翟所强;兰兰;袁虎;王秋菊;
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