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Microarray-based diagnosis of pediatric hearing impairment-construction of a deafness gene chip

机译:基于微阵列的小儿听力障碍诊断-耳聋基因芯片的构建

摘要

The present invention is related to diagnostic arrays comprising primers for various regions of candidate genes involved in hearing loss, specifically pediatric hearing loss. The invention further is directed to methods for diagnosing a cause or risk factor for hearing loss. In some embodiments, these methods include obtaining a sample from a patient; screening the sample for the presence or absence of alleles of at least 5 loci associated with a risk for hearing loss to obtain a result of the screening; and making a diagnosis based upon the result. The present invention is also directed to the amplification of genetic sequence from multiple or single exons for use in the screening of samples.
机译:本发明涉及诊断阵列,该诊断阵列包括用于涉及听力损失,特别是小儿听力损失的候选基因的各个区域的引物。本发明进一步针对用于诊断听力损失的原因或危险因素的方法。在一些实施例中,这些方法包括从患者那里获得样品;以及筛选样品中是否存在至少5个基因座的等位基因,这些基因位点与有听力损失的风险有关,以获得筛选结果;并根据结果做出诊断。本发明还涉及从多个或单个外显子扩增遗传序列,用于筛选样品。

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