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
{{i.achievement_title}}
{{i.achievement_title}}
暂无此项成果
数据更新时间：2023-05-31
其他相关文献
ROS-Responsive Nanoparticle as a Berberine Carrier for OHCTargeted Therapy of Noise-Induced Hearing Loss
ROS-Responsive Nanoparticle as a Berberine Carrier for OHCTargeted Therapy of Noise-Induced Hearing Loss
The fracture behavior of twinned Cu nanowires: Amolecular dynamics simulation
The fracture behavior of twinned Cu nanowires: Amolecular dynamics simulation
Dynamic behaviors of protein and starch and interactions associated with glutenin composition in wheat dough matrices during sequential thermo-mechanical treatments
Dynamic behaviors of protein and starch and interactions associated with glutenin composition in wheat dough matrices during sequential thermo-mechanical treatments
Cannabinoid receptor GPR55 activation blocks nicotine use disorder by regulation of AMPAR phosphorylation
Cannabinoid receptor GPR55 activation blocks nicotine use disorder by regulation of AMPAR phosphorylation
A label-free fluorescent probe for accurate mitochondrial G-quadruplex structures tracking via assembly hindered rotation induced emission
A label-free fluorescent probe for accurate mitochondrial G-quadruplex structures tracking via assembly hindered rotation induced emission
戴朴的其他基金
相似国自然基金
常染色体显性遗传感音神经性耳聋相关基因的定位和克隆
遗传性感音神经性耳聋家系新的致病基因定位与克隆研究
遗传性低中频感音神经性耳聋致病基因的鉴定及功能研究
常染色体隐性遗传共济失调致病基因定位克隆