摘要
目的 听力损失是中国人群中的常见的感觉障碍性疾病。为了解遗传因素在中国听力损失病人中的作用,对两个中国耳聋大家系进行了遗传特征的分析。方法:家系中的先证者在解放军总医院耳鼻咽喉头颈外科就诊,诊断为感音神经性耳聋。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、纯音测听及听性脑干诱发电位检查。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:两个中国耳聋家系,命名为Z002及F013家系,表现为一种代代相传的中度及中重度听力掘失。遗传方式考虑为常染色体显性遗传方式。在Z002家系的听力表型表现为一种高频听力损失,而在F013家系表现为低频听力损失。结论:本文报道了两个特征为非综合征型的常染色体显性遗传的中国耳聋家系。系谱图分析提示两个家系均为常染色体显性遗传方式。这两个家系适合于进一步的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。
Objectives Hearing loss is one of the most common sensory disorders in the Chinese population. Two Chinese pedigrees with hearing loss are presented herein to demonstrate involvement of genetic factors in hearing loss in Chinese population. Methods: Probands of the above-mentioned pedigrees, who had been diagnosed with sensorineura) hearing loss, were evaluated and followed in the Department of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital. Their family members were studied and the pedigree maps established. History of illness, physical examination, pure tone audiometry, auditory brainstem responses (ABRs) were obtained from members of these families. Some subjects received computed tomography (CT) scan of the temporal bone to exclude other possible systemic disorders. Results Two Chinese families, named pedigreeZ002, F013, with moderate to moderate severe hearing loss that had been inherited through one generation to another generation were found. Autosomal dominant inheritance was hypothesized to be the transmission mechanism in these families. The phenotypes in family Z002 explored one kind of high frequency hearing loss, whereas in family F013 manifested low frequency hearing loss. Conclusions In this study, patients with characteristics of non-syndromic hereditary autosomal dominant hearing loss were identified in two Chinese families. Pedigree analysis suggested an autosomal dominant hereditary pattern in the two pedigrees.The information should facilitate future molecular linkage analyses and positional cloning for the relative genes contributing to autosomal dominant hearing loss.
出处
《中国听力语言康复科学杂志》
2003年第1期18-21,共4页
Chinese Scientific Journal of Hearing and Speech Rehabilitation
基金
国家自然基金面上项目(A30170530)
北京市科技创新项目(H01L0210160119)联合资助~~