吉林省常染色体显性遗传非综合征型耳聋家系的遗传学特征分析  

Clinical and Genetic Features of Eight Chinese Kindreds With Nonsyndromic Autosomal Dominant Hereditary Hearing Loss in Jilin Province of China

作　　者：聂宇航[1] 张桂茹[1] 陈焕玲[2] 金慧[3] 张宝林[4] 尹丽娥[1] 

机构地区：[1]吉林大学第一医院耳鼻咽喉头颈外科,吉林长春130021 [2]吉林大学第一医院二部儿科,吉林长春130031 [3]吉林省肿瘤医院头颈外科,吉林长春130012 [4]吉林省人民医院耳鼻喉科,吉林长春130021

出　　处：《中国实验诊断学》2011年第3期461-464,共4页Chinese Journal of Laboratory Diagnosis

基　　金：吉林省科技厅计划项目20050405-3

摘　　要：目的分析吉林省8个耳聋家系的遗传特征。方法对吉林省8个耳聋家系的资料进行搜集、整理及临床遗传学特征的分析。通过先证者对家系成员进行调查并绘制系谱图。对调查的家系成员进行病史、体检、纯音测听、声导抗及听性脑干反应检查。一些家系成员进行了颞骨CT扫描检查以排除听觉系统的其他病变。结果此8个耳聋家系,命名为XN01至XN08家系,其先证者均为感音神经性聋,无全身其他系统异常。8个耳聋家系其耳聋遗传方式均为常染色体显性遗传。听力表型为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。结论所研究8个耳聋家系其耳聋遗传方式为常染色体显性遗传,后续研究将进行进一步的候选基因突变筛查、连锁分析及定位克隆研究,以便寻找到相应的耳聋相关基因。Objective To evaluate genetic characters of eight Chinese kindreds with nonsyndromic autosomal dominant hereditary hearing loss in Jilin Province.Methods Eight kindreds with nonsyndromic hearing loss were clinically studied.After obtaining informed consent from all study participants in the eight families,general medcine and otolaryngological examination were performed.Medical and augdiological examination ere administered to rule out any syndromic hearing impairment.Some individuals were carried out computed tomography（CT）scan of the temporal bone to exclude other possible aural disorders.Results The probands of the eight kindreds（XN01 to XN08）had been diagnosed with senserineural hearing loss.The pattern of inheritance of the family was autosomal dominant based on the investigated information.The hearing loss began in the high frequencies,and lower frequencies became involved with increasing age,thus causing a flat audiogram.Conclusion Predigree analysis suggested an autosomal dominant hereditary pattern in the erght predigrees.The information should facilitatc future molecular linkage analyses and positional cloming for the relative genes bontributing to autosomal dominant hearing loss.

关 键 词：常染色体显性遗传 遗传性耳聋 临床遗传学 家系 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]