一个非综合征型聋家系的分子病因学研究

A Mutation Analysis of GJB2 and SLC26A4 Gene in A Chinese Family with Non-Syndromic Deafness

欧阳治国;金舰;陈家海;

1:浙江省义乌市中心医院耳鼻咽喉科

摘要
目的探讨一个常染色体隐性遗传性非综合征型聋家系的分子病因,为该类型耳聋的基因筛查及诊断提供借鉴。方法对浙江义乌市的一个4人患病的非综合征型聋家系进行临床资料和全血样本的收集,利用PCR扩增目的基因后直接测序的方法,对相关家系成员进行GJB2及SLC26A4基因全编码序列及侧翼序列的检测,应用Sequencher4.9软件对上述序列结果进行分析。结果该家系遗传学上表现为常染色体隐性遗传,耳聋患者临床表型均为非综合征型、语前极重度感音神经性聋;4个耳聋患者中,先证者(Ⅲ-1)及其妹妹(Ⅲ-2)、母亲(Ⅱ-4)有双侧前庭水管扩大,父亲(Ⅱ-3)颞骨高分辨率CT检查未见异常。在该家系中共发现GJB2基因一种突变和SLC26A4基因三种不同的突变,患病成员中先证者及其妹妹、母亲分别携带SLC26A4基因c.919-2A>G和p.H723R、p.Q413R和c.919-2A>G、p.Q413R和p.H723R复合杂合突变,父亲携带GJB2基因c.235delC纯合突变。结论与多数报道的同一个耳聋家系具有相同的分子病因不同,该耳聋家系遗传学上表现为常染色体隐性遗传,患病成员的分子病因各异,先证者及其妹妹、母亲的耳聋病因分别是SLC26A4基因不同的双等位基因突变,先证者父亲的耳聋病因则为GJB2双等位基因突变。
关键词
GJB2基因;SLC26A4基因;耳聋家系;非综合征型聋
基金项目(Foundation):
作者
欧阳治国;金舰;陈家海;
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欧阳治国金舰陈家海