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摘要: 耳聋的致病因素复杂，50%以上由遗传因素所致。遗传性耳聋80%为常染色体隐性遗传模式，其中70%~80%为非综合征性耳聋，15%~24%为常染色体显性遗传模式，其余1%~2%为连锁遗传模式。母系遗传性聋发病多与氨基糖苷类抗生素诱发有关，不当用药会造成敏感个体的重度感音性聋。目前发现大约120个耳聋致病基因，包括数个耳聋重点致病基因：GJB2、SLC26A4及线粒体DNA A1555G突变等。人工耳蜗是一种生物医学工程装置，可以帮助听力障碍人士恢复听力和言语交流能力的。近年来随着科技的不断发展和完善，人工耳蜗植入技术已日趋成熟，其临床应用在我国也得到了逐步开展，并取得了较为显著的疗效。然而，人工耳蜗植入并非适合所有耳聋患者，其适应症还在进一步的总结和探索当中，明确患者的耳聋病因是衡量手术指针的首要因素。本文就应用人工耳蜗植入治疗遗传性耳聋的现状及其未来发展趋势作简要介绍。
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关键词:
- 人工耳蜗植入 /
- 遗传性耳聋 /
- 基因突变 /
- GJB2 SLC26A4 /
- 线粒体DNA
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表 1 常染色体隐性遗传的非综合征型聋相关基因
基因名称 编码蛋白质功能 染色体定位 GBJ2(Cx26) 跨膜间隙连接蛋，维持离子内环境稳定 13q11-q12 MYO15 细胞骨架蛋，参静纤毛构成 17q11.2 MYO7A 细胞骨架蛋，参与纤毛构成及运动 11q13.5 PDS(SLC26A4) 跨膜蛋白，参与内淋巴液平衡 7q31 OTOF 细胞外基质成分参与毛细胞和I型前庭感觉细胞构成 2q22-q23 TECTA 细胞外基质成分，Corti器的适配结构 11q22-q24 
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表 2 常染色体显性遗传的非综合征型聋相关基因
基因名称 编码蛋白质功能 染色体定位 hDIAPH1 细胞骨架蛋白，促进毛细胞收缩结构成熟 5q31 GJB3 跨膜间隙连接蛋，影响结合子间相互作用 1q34 KCNQ4 钾通道蛋白超家族，形成跨膜钾通道 1q34 GJB6 跨膜间隙连接蛋白，维持离子内环境稳态 13q12 GJB2 跨膜间隙连接蛋白，维持离子内环境稳态 13q12 DFNA5 尚不明确，可能与DNA复制终止有关 7q15 TECTA 细胞外基质成分，Corti器的适配结构 11q22-q24 MYO7A 细胞骨架蛋白，参与纤毛构成及运动 11q2.3-q21 COL11A2 细胞外质成分，参与构成II型胶原蛋白α亚单位 6q21 COCH 细胞外基质成分，参与听力及前庭功能 14q12-13 POU4F3 转录因子，调节功能蛋白转录 35q31
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