| 一个常染色体显性遗传低频感音神经性聋家系听力学及遗传学特征分析 |
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| 引用本文： | 孙艺,卢宇,朱玉华,程静,李建忠,冀飞,王荣光,袁慧军. 一个常染色体显性遗传低频感音神经性聋家系听力学及遗传学特征分析[J]. 听力学及言语疾病杂志, 2010, 18(2): 113-117 |
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| 作者姓名： | 孙艺 卢宇 朱玉华 程静 李建忠 冀飞 王荣光 袁慧军 |
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| 作者单位： | 中国人民解放军总医院耳鼻咽喉科研究所,北京,100853 |
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| 基金项目： | 国家高技术研究发展计划("863"高科技项目)资助 |
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| 摘 要： | 目的分析一个常染色体显性遗传性聋家系的临床听力学特征及遗传规律。方法对一个常染色体显性遗传低频感音神经性聋家系28名成员进行病史采集、体检及纯音测听、声导抗检查并绘制系谱图。其中，5名患者进行耳声发射、听性脑干反应检查，2名患者进行前庭功能及颞骨CT扫描检查以排除听神经病及听觉系统的其他病变。全部成员均应用微卫星标记对DFNA21个位点23个基因进行初步筛查，数据分析采用连锁分析方法。结果该耳聋家系（命名为BJ—L046）遗传方式为常染色体显性遗传，耳聋患者表现为迟发型的、渐进性的、以低频下降为主的听力损失，发病年龄5～28岁，早期以低频损失为主，听力曲线呈上升型，随着年龄增长逐渐累及全频听力，听力曲线由上升型变为平坦型。全部家系成员FNA21个位点23个基因筛查均为阴性。结论该耳聋家系为常染色体显性遗传方式，表现为低频感音神经性聋，数据连锁分析无阳性发现，初步排除了21个DFNA位点23个已知基因。
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| 关 键 词： | 常染色体显性遗传 遗传性聋 低频 表型 家系 微卫星标记 连锁分析 |
Genetic and Audiological Characteristics of a Chinese Family with Autosamal Dominant Hereditary Non-syndromic Low-frequency Sensorineural Hearing Loss |
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| Sun Yi,Lu Yu,Zhu Yuhua,Cheng Jing,Li Jianzhong,Ji Fei,Wang Rongguang,Yuan Huijun. Genetic and Audiological Characteristics of a Chinese Family with Autosamal Dominant Hereditary Non-syndromic Low-frequency Sensorineural Hearing Loss[J]. Journal of Audiology and Speech Pathology, 2010, 18(2): 113-117 |
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| Authors: | Sun Yi Lu Yu Zhu Yuhua Cheng Jing Li Jianzhong Ji Fei Wang Rongguang Yuan Huijun |
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| Affiliation: | Sun Yi,Lu Yu,Zhu Yuhua,Cheng Jing,Li Jianzhong,Ji Fei,Wang Rongguang,Yuan Huijun(Institute of Otolaryngology,Department of Otorhinolaryngology Head ,Neck Surgery,Chinese PLA General Hospital,Beijing,100853,China) |
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| Abstract: | Objective To investigate the phenotype and genetic characteristics of a Chinese family with an autosomal-dominant inherited sensorineural hearing loss.Methods A Chinese pedigree associated with an autosomal-dominant inherited low-frequency sensorineural hearing loss(LFSNHL) was investigated.After obtaining informed consent from all study participants medical and audiological examination were used to rule out any syndromic hearing impairment.Five patients were tested with DPOAE and ABR,while two patients wer... |
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| Keywords: | Autosomal dominant Hereditary hearing Loss Low-frequency Phenotype Pedigree Microsatellite markers Linkage analysis |
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