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Genetic characteristic in pedigrees of autosomal dominant hereditary hearing loss

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.
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