中文摘要：

目的：分析一个连续5代遗传的常染色体显性高频听力损失家系的听力学及遗传学特征。方法：通过对家系成员进行全面体检及临床听力学检测,整理、分析家系资料,确定遗传规律,绘制遗传图谱并进行听力学特征分析。应用Affymetrix 5.0SNP芯片对该家系参与连锁分析的32例成员进行全基因组扫描及连锁分析,行致病基因的染色体定位。结果：该耳聋家系（命名为SX-G087）成员共计91例。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20～35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,以高频下降为主,部分患者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。应用芯片进行全基因组扫描,1～22号染色体未发现有显著连锁的区段。结论：该家系遗传学特征符合常染色体显性遗传方式,表现为早期高频听力下降并逐渐累积全频的特征,全基因组扫描未发现有显著连锁的区段。因此希望通过对该家系进一步的表型分析或者运用新一代测序技术,可以找到该家系高频感音神经性聋的致病基因。

英文摘要：

Objective：To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.Method：Pedigree was drawn after investigation.Fifeteen family members were checked up,and detailed audiological examination was performed.Result：The proband of the kindred had been diagnosed with senserineural hearing loss.A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained.The inheritance pattern of this family is autosomal dominant based on the investigated information.The affected members showed postlingual,progressive,bilateral moderate to severe sensorineural hearing impairment.The age of onset varied from 20 to 35 years.The hearing loss began at high frequencies,and lower frequencies became involved with increasing age.Conclusion：Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family.The information should facilitate linkage analysis and positional cloning for the causative gene of this family.