大前庭水管综合征家系SLC26A4基因传递特征分析

The Hereditary Features of SLC26A4 Mutations in Families Associated with Large Vestibular Aqueduct Syndrome

王艳莉;郭玉芬;徐百成;袁逸铭;朱一鸣;历建强;李倩;王秋菊;

1:兰州大学第二医院耳鼻咽喉-头颈外科

2:甘肃省卫生厅

3:解放军总医院耳鼻咽喉-头颈外科、解放军耳鼻咽喉研究所

摘要
目的探讨大前庭水管综合征家系SLC26A4基因的传递特征。方法收集3个大前庭水管综合征家系的病史资料和家系成员的外周静脉血各5ml,提取基因组DNA,应用聚合酶链反应(PCR)的方法扩增SLC26A4基因的第8、19外显子,纯化PCR产物后直接测序,使用Sequencher4.9和DNAStar7.0序列比对软件分析SLC26A4基因的突变位点,并对患者的后代发病率进行预测。结果 3个家系中共发现5名患者分别携带SLC26A4基因IVS7-2A>G和H723R的纯合或复合杂合突变,先证者的父母听力均正常,但均为单个等位基因突变的杂合携带者。结论 3个家系中子代患病几率分别为60%、50%和50%。
关键词
大前庭水管综合征;SLC26A4基因;突变类型;遗传特征
基金项目(Foundation):
国家863项目(2006AA02Z181);; 国家自然基金重点项目(30830104),国家自然基金面上项目(30672310,30771203,30771857);; 高等学校全国优秀博士学位论文作者专项资金资助项目(200463);; 北京市科技计划重大项目(D0906005040291);; 国家973项目(2007CB507400);; 北京市重大专项课题项目(7070002);; 国家“十一五”科技支撑计划(2006BAI02B06&2007BAI18B12);; 甘肃科技厅-技术研究与开发专项计划(0805TCYA004);; 甘肃省自然科学研究基金计划(096RJZA073&096RJZA074);; 甘肃省中青年基金(0711RJYA009)联合资助
作者
王艳莉;郭玉芬;徐百成;袁逸铭;朱一鸣;历建强;李倩;王秋菊;
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