摘要
本文报道了一个遗传性非综合征性耳聋巨大家系。家族中有血缘关系的成员共有 113人。对有血缘关系的 6 6名家族成员及 8名配偶进行了全身体检、耳鼻咽喉专科检查、纯音测听、声导抗、听觉脑干诱发电位检查及血样采集。结果显示 ,6 6名家族成员中有 37人有不同程度的感音神经性听力下降 ,未见其他系统的异常改变 ;遗传图谱分析显示 ,该家系符合常染色体显性遗传特征。研究表明 ,对该家系听力资料和遗传资料的完整收集为下一步聋病基因定位克隆工作奠定了良好的基础。
To investigate a huge family with autosomal dominant hereditary non syndromic hearing loss. In this family, sixty six of 113 family members and 8 spouses have been conducted physical examination, pure tone audiometry, immittance testing and auditory brainstem response testing (ABR). The results indicated that 37 of 66 tested family members have sensorineural hearing loss in various degrees. No associated visible abnormalities in other systems were found in this family. The mode of inheritance of this family should be autosomal dominant according to its pedigree. The full collections of both blood samples and physiological hearing assessments of this family have provided the solid basis for future study on identifying disease causing gene.
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2003年第8期703-704,共2页
Medical Journal of Chinese People's Liberation Army
基金
解放军总医院"院长基金--回国人员启动"资助课题
关键词
耳聋
遗传
常染色体显性
家系
hearing loss
heritance
autosomal dominant
pedigree