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首页> 外文期刊>American journal of medical genetics, Part A >A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
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A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

机译：使用基于微滴PCR的方法和下一代测序，对听力损失进行灵敏且特定的诊断测试。

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摘要

Implementing DNA diagnostics in clinical practice for extremely heterogeneous diseases such as hearing loss is challenging, especially when attempting to reach high sensitivity and specificity in a cost-effective fashion. Next generation sequencing has enabled the development of such a test, but the most commonly used genomic target enrichment methods such as hybridization-based capture suffer from restrictions. In this study, we have adopted a new flexible approach using microdroplet PCR-based technology for target enrichment, in combination with massive parallel sequencing to develop a DNA diagnostic test for autosomal recessive hereditary hearing loss. This approach enabled us to identify the genetic basis of hearing loss in 9 of 24 patients, a success rate of 37.5%. Our method also proved to have high sensitivity and specificity. Currently, routine molecular genetic diagnostic testing for deafness is in most cases only performed for the GJB2 gene and a positive result is typically only obtained in 10-20% of deaf children. Individuals with mutations in GJB2 had already been excluded in our selected set of 24 patients. Therefore, we anticipate that our deafness test may lead to a genetic diagnosis in roughly 50% of unscreened autosomal recessive deafness cases. We propose that this diagnostic testing approach represents a significant improvement in clinical practice as a standard diagnostic tool for children with hearing loss.
机译：在临床实践中针对极异质性疾病（例如听力损失）实施DNA诊断非常具有挑战性，尤其是在试图以经济高效的方式达到高灵敏度和特异性时。下一代测序已经可以开发这种测试方法，但是最常用的基因组靶标富集方法（例如基于杂交的捕获）受到限制。在这项研究中，我们采用了一种新的灵活方法，该方法使用基于微滴PCR的技术进行靶标富集，并与大规模并行测序相结合，以开发用于常染色体隐性遗传性听力损失的DNA诊断测试。这种方法使我们能够识别24名患者中9名听力损失的遗传基础，成功率为37.5％。我们的方法还被证明具有很高的灵敏度和特异性。当前，在大多数情况下，仅针对GJB2基因进行常规的耳聋分子遗传学诊断测试，并且通常仅在10-20％的聋哑儿童中获得阳性结果。在我们选择的24例患者中，已经排除了GJB2突变的个体。因此，我们预计我们的耳聋测试可能会导致大约50％的未筛查常染色体隐性耳聋病例的遗传诊断。我们建议这种诊断测试方法代表临床实践中的重大进步，作为听力丧失儿童的标准诊断工具。

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