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中文摘要：
目的 探讨遗传性聋基因的定位克隆研究。方法 对两个国人耳聋大家系的资料进行了收集、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 两个耳聋家系，其先证者均诊断为感音神经性聋，分别命名为Z1318及W727家系，表现为一种代代相传的中度至中重度听力损失。遗传方式为常染色体显性遗传，听力表型为一种迟发型的、渐进性的、以高频下降为主的听力损失，但两家系在听力下降的具体表现形式上存在差异。Z1318家系发病年龄各代间较稳定，为10-20岁，而W727家系各代差别较大，为8-30岁，且有逐代提前的趋势。Z1318家系以高频损失为主，听力曲线呈下降型；W727家系初以高频下降为主，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 两个家系均为常染色体显性遗传方式，均适合于进一步的候选基因克隆及连锁分析、定位克隆研究，以便寻找到相应的耳聋相关基因。
英文摘要：
Objective To investigate the causative genes of the kindred with genetic heating impairment by means of positional cloning approach. MethOdS Two large Chinese kindreds with non- syadremic hearing loss were clinically studied. After obtaining informed consent from all study participants in the two families, general medcine and otolaryngological examination were performed. Medical and augdiolngieal examination were administered to rule out any syndremic hearing impairment. Some individuals were carried out computed tomngraphy （CT） scan of the temporal hone to exclude other possible aural disorders. Results Two Chinese families （Z1318 and W727）, with non- syndromic heating loss were ascertained. Probands of the two kindreds had been diagnosed with senserineural heating loss. The mode of inheritance of the families should be autesomal dominant according to their pedigrees. The two families shared some common phenotypic features：being bilateral and having postlingual, progressive, moderate to moderately severe sensorineural hearing impairment involving mainly higher frequencies principally. However, there appeared to be some differences in the pattern of hearing loss between the two families. Hearing impairment of affected members in family Z1318 had been present since adolescence （10 to 20 years of age）, mainly affecting the high frequencies of 2 - 8 kHz, causing a sloping audingrams. While, in family W727, the age- of- onset varies from 8 to 30 years, the hearing loss began in the high frequencies, and lower frequencies became involved with increasing age, thus causing a flat- type audiogram after age 50 years. Conclusion Pedigree analysis snggested an autesomal dominant hereditary pattern in the two pedigrees. The information should facilitate future molecular linkage analyses and positional cloning for the relative genes contributing to autesomal dominant bearing loss.
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