中华耳科学杂志Issue(1)：19-22,4.DOI:10.3969/j.issn.1672-2922.2014.01.005
单侧大前庭水管综合征SLC26A4基因的突变分析
Prevalence of SLC26A4 mutations in deafness with unilateral enlarged vestibular aqueduct syndrome
摘要
Abstract
Objective To determine the prevalence of SLC26A4 mutation in the patients with unilateral enlarged ves-tibular aqueduct syndrome, and explore the risk factors of the unilateral enlarged vestibular aqueduct syndrome. Methods All patients with hearing test and temporal bone CT scan received the genetic tests in coding region of SLC26A4, and the pa-tients were divided into two groups according to the temporal bone CT:unilateral and bilateral enlarged vestibular aqueduct. Results The positive rate of SLC26A4 in patients with unilateral enlarged vestibular aqueduct (29.41%) was significantly lower than that in patients with bilateral large vestibular aqueduct (95.97%). (P<0.01) Conclusion Unilateral EVA is not as-sociated with SLC26A4 and may have a different etiology.关键词
耳聋/大前庭水管综合征(单侧)/SLC26A4Key words
hearing loss/Unilateral enlarged vestibular aqueduct syndrome/SLC26A4分类
医药卫生引用本文复制引用
黄莎莎,黄邦清,董敏,孟肖肖,戴朴..单侧大前庭水管综合征SLC26A4基因的突变分析[J].中华耳科学杂志,2014,(1):19-22,4.基金项目
国家自然科学基金面上项目（81070792），国家科技支撑计划课题（2012BAI09B02），国家自然科学基金重点基金（81230020），国家高技术研究发展计划863计划（2012AA020101），国家自然科学基金青年基金（81200751，81000414），解放军总医院苗圃基金 （）
