非综合征型聋患儿SLC26A4基因突变分析

Analysis of the Mutations in SLC26A4 Gene in Children with Non-syndromic Hearing Loss

戴翔;李隽;胡晞江;童静;向萍霞;刘翎;冷培;

1:武汉市妇女儿童医疗保健中心生殖医学实验室

2:武汉市妇女儿童医疗保健中心耳鼻咽喉科

摘要
目的应用基因检测技术分析非综合征型聋患儿SLC26A4基因突变情况,探讨其病因及突变规律。方法收集137例6个月-13岁散发非综合征型聋患儿(耳聋组,双侧聋119例,单侧聋18例)和126例正常对照者(对照组)的外周血样本和临床资料,应用聚合酶链反应(PCR)和直接测序法对耳聋组和对照组进行SLC26A4基因突变检测。结果耳聋组中23例发现SLC26A4基因突变,占16.79%(23/137),占双侧耳聋患者的19.33%(23/119);20例双侧前庭水管扩大(LVA)的患者中SLC26A4基因突变19例,占95.0%(19/20)。共发现11种突变,包括4种国际上尚未报道的突变:E29K(c.85G>A)、R79X(c.235C>T)、C282G(c.844T>G)和V285I(c.853G>A),7种已报道突变,其中IVS7-2A>G是最常见的突变,23例SLC26A4基因突变患者中有19例有IVS7-2A>G突变,约占82.61%(19/23)。对照组中未检出SLC26A4基因致病突变。结论 SLC26A4基因突变与LVA密切相关,是非综合征型聋的常见病因,其中IVS7-2A>G突变最常见。
关键词
非综合征型听力损失;SLC26A4基因;突变;遗传
基金项目(Foundation):
武汉市青年科技晨光计划项目(200950431210)资助
作者
戴翔;李隽;胡晞江;童静;向萍霞;刘翎;冷培;
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