【摘 要】
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Objective: To establish the diagnostic platform of hereditary hearing impairment by combining targeted genes capture with high-throughput sequencing technology, and verify the efficiency of this metho
【机 构】
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Department: Institute of Otolaryngology, Chinese People's Liberation Army General Hospital,Medical
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Objective: To establish the diagnostic platform of hereditary hearing impairment by combining targeted genes capture with high-throughput sequencing technology, and verify the efficiency of this method, laying the methodological foundation of further analysis to cover a variety of genetic hereditary hearing impairment samples to determine the proportion of genetic causes of hearing loss preliminary, as well as to analyze the incidence of each gene in various hearing loss population.Methods: In this study, mutation screening of 307 nuclear genes and mitochondrial genome responsible for human or mouse hearing impairment were performed in the eighty three patients with 39 known mutations to verify the validity of our methods firstly.
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