常染色体隐性遗传感音神经性耳聋的分子致病机理研究
基本信息
结项摘要
本研究重点在于对新生儿健康造成重大影响的常染色体隐性遗传中、重度感音神经性耳聋的流行病学调查、分子发病机制研究、快速筛查和诊断方法的建立以及治疗预防策略的探讨。常染色体隐性遗传中、重度感音神经性耳聋在出生听力缺陷中所占比例最高（38%），已知相关基因众多。本研究拟建立全国范围的先天性耳聋DNA库，筛查所有的常见致聋基因或突变热点，以基因组DNA筛查和cDNA快速筛查方式在常染色体隐性遗传致聋基因组群搜寻未知突变，找到中国人特有的重点隐性遗传致聋基因，以完成中国人整体的常见耳聋基因的热点突变发生频率调查、绘制隐性遗传致聋基因突变和多态性的详细图谱，建立数据库；在已明确诊断的患者群内指导治疗和预防措施，利用产前诊断配合优生优育手段防止聋儿的出生。
项目摘要
项目成果
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数据更新时间：2023-05-31
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