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METHODS AND COMPOSITIONS FOR DETECTING PROGRESSIVE HEARING LOSS
METHODS AND COMPOSITIONS FOR DETECTING PROGRESSIVE HEARING LOSS
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机译:检测渐进性听力损失的方法和成分
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摘要
Methods and products for identifying a human subject as having or having an increased likelihood to develop otosclerosis hearing loss are provided. The method comprises (a) obtaining a suitable sample from the subject; (b) assaying the sample for the presence or absence of a mutation in: i) a FOXL1 polynucleotide encoding an amino acid corresponding to position 326 to position 330 of SEQ ID NO:2 or ii) a FOXL1 polypeptide encoded by said polynucleotide; and (c) identifying the subject as having or having an increased likelihood to develop otosclerosis hearing loss if said mutation is detected.
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机译:提供了用于鉴定人类受试者患有耳硬化症听力损失的可能性或增加的方法和产品。该方法包括(a)从受试者获得合适的样品; (b)分析样品中是否存在突变:i)FOXL1多核苷酸,其编码对应于SEQ ID NO:2的326位至330位的氨基酸;或ii)由所述多核苷酸编码的FOXL1多肽; (c)如果检测到所述突变,则将所述受试者鉴定为患有或有增加的可能性发展为耳硬化症听力损失。
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