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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。
This article reports a hereditary non-syndromic deafness huge family. A total of 113 family members have a blood relationship. Sixty-six clan members and eight spouses were tested for physical examination, otolaryngology examination, pure tone audiometry, acoustic guidance, auditory brainstem response and blood sampling. The results showed that 37 of 66 family members had different degrees of sensorineural hearing loss, and no abnormal changes of other systems were found. Genetic analysis showed that the pedigree was consistent with autosomal dominant inheritance. Studies have shown that the complete collection of hearing data and genetic data of this pedigree laid a good foundation for the next step in gene cloning of deafness.