常染色体显性遗传非综合征型耳聋家系听力学及遗传学特征分析  

Clinical and genetic features of a large Chinese family with nonsyndromic autosomal dominant hereditary hearing loss

作　　者：朱玉华[1] 孙艺[1] 李建忠[1] 金占国[1] 程静[1] 卢宇[1] 韩冰[1] 戴朴[1] 袁慧军[1] 翟所强[1] 

机构地区：[1]解放军总医院耳鼻咽喉科研究所,北京100853

出　　处：《中华耳科学杂志》2010年第1期14-18,共5页Chinese Journal of Otology

基　　金：国家高技术研究发展计划("863"高科技项目)<耳聋出生缺陷的发生机制及综合干预技术的研究>(No.2007AA02Z466);科技部"十一五"支撑计划课题<听觉退行性疾病的防治研究>(No.2006BAI02B06)资助

摘　　要：目的分析一个连续5代遗传的耳聋大家系的临床听力学特征及遗传规律。方法通过家系调查,对家系成员进行全身系统检查及临床听力学检测,分析遗传规律,绘制遗传图谱并进行听力学特征分析。结果此耳聋家系成员共计35人。其先证者为感音神经性聋,无全身其他系统异常。耳聋遗传方式为常染色体显性遗传,发病年龄各代间较稳定,为15～30岁。听力表型为代代相传、迟发性、渐进性的中度至重度听力损失,听力损失初以高频下降为主,随着年龄增长逐渐累及全频听力,听力曲线由下降型变为平坦型。结论该家系遗传学特征分析符合非综合征型常染色体显性遗传方式,该研究为进一步致病基因的定位与克隆奠定了基础。Objective To evaluate phenotype and genetic characters of a five-generation Chinese kindred with nonsyndromic autosomal dominant hereditary hearing loss.Methods Pedigree was drawn after investigation.Sixteen family members were checked up,and detailed audiological examination were performed（including pure tone assay,acoustic immittance measurement）.Results The proband of the kindred had been diagnosed with senserineural hearing loss.The pattern of inheritance of the family was autosomal dominant based on the investigated information.The affected members showed postlingual,progressive,bilateral moderate to severe sensorineural hearing impairment involving all frequencies.The age of onset varied from 15 to 30 years.The hearing loss began in the high frequencies,and lower frequencies became involved with increasing age,thus causing a flat audiogram.Conclusion Pedigree analysis suggested an autosomal dominant hereditary pattern in this family.The information should facilitate linkage analysis and positional cloning for the causative gene of this family.

关 键 词：常染色体显性遗传 遗传性耳聋 遗传异质性 表型 家系 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R596[医药卫生—临床医学]