| 先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析 |
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| 引用本文： | 郭亿莲,李征玥,何琦,孙一帆,徐庆文,周小军,张丽娟,王明松,孔祥廉,赖海彪,袁慧军.先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析[J].中华耳科学杂志,2011(4):413-416. |
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| 作者姓名： | 郭亿莲 李征玥 何琦 孙一帆 徐庆文 周小军 张丽娟 王明松 孔祥廉 赖海彪 袁慧军 |
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| 作者单位： | 广东省中山市中医院;中国人民解放军总医院耳鼻喉研究所;广东省中山市残疾人联合委员会; |
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| 基金项目： | 中山市科学技术研究基金:遗传性耳聋家系资源的采集及临床表型特性研究(20102A039); 国家自然科学基金重点项目(81030017) |
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| 摘 要： | 目的一个连续三代的常染色体显性遗传先天性非进展性非综合症型耳聋家系的临床听力学特征及遗传规律。方法对耳聋家系成员进行病史采集、体格检查、纯音测听、声导抗、听性脑干反应检测,其中一名患者进行颞骨CT扫描检查。绘制遗传图谱并进行遗传学特征分析。结果该家系成员共计18人,耳聋患者11人,其中一例为氨基糖苷类药物致聋患者。该耳聋家系每代及男女均有发病,非药物致聋患者均表现为语前聋、平稳型、全频中度听力下降,听力曲线呈平坦型。结论该家系遗传方式符合常染色体显性遗传规律,表现为全频中度感音神经性耳聋。该研究为下一步的致聋基因的定位与鉴定奠定了良好的工作基础。
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| 关 键 词： | 常染色体显性遗传 感音神经性耳聋 语前聋 全频 表型 |
Phenotype characteristics of a Chinese family with congenital,stable,autosomal dominant non-syndromic sensorineural hearing loss |
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| GUO Yi-lian ,LI Zheng-yue ,HE Qi ,SUN Yi-fan ,XU Qing-wen ,ZHOU Xiao-jun ,ZHANG Li-juan ,WANG Ming-song ,KONG Xiang-lian ,LAI Hai-biao ,YUAN Hui-jun.Phenotype characteristics of a Chinese family with congenital,stable,autosomal dominant non-syndromic sensorineural hearing loss[J].Chinese Journal of Otology,2011(4):413-416. |
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| Authors: | GUO Yi-lian LI Zheng-yue HE Qi SUN Yi-fan XU Qing-wen ZHOU Xiao-jun ZHANG Li-juan WANG Ming-song KONG Xiang-lian LAI Hai-biao YUAN Hui-jun |
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| Institution: | GUO Yi-lian 1,LI Zheng-yue 2,HE Qi 3,SUN Yi-fan 1,XU Qing-wen 1,ZHOU Xiao-jun 1,ZHANG Li-juan 1,WANG Ming-song 1,KONG Xiang-lian 1,LAI Hai-biao 1,YUAN Hui-jun 1 1 Department of Otolaryngology,Zhongshan Traditional Chinese Medicine Hospital of Guangdong Province,Zhongshan 528400,China 2 Department of Otolaryngology Head and Neck Surgery,Institute of Otolaryngology,PLA General Hospital,Beijing 100853,China 3 Zhongshan Disabled Persons'Federation of Guangdong Province,China |
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| Abstract: | Objective To study the phenotypes and genetic characteristics of a three-generation Chinese family with autosomal dominant inherited progressive nonsyndromic hearing loss.Methods Pedigree was drawn after the investigation.Eighteen family members were examined including detailed audiology tesing(pure tone assay,acoustic immittance comprised of 18 members,of whom 11 were affected.One patient had a history of using aminoglycosides.The pattern of inheritance of this family was autosomal dominant based on the in... |
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| Keywords: | Autosomal dominant Sensorineural hearing loss Prelingually deaf Whole frequency Phenotype |
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