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首页> 外文期刊>BMC Medical Genomics >A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns
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A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

机译：多重PCR扩增子测序测定以筛选新生儿遗传听力损失变体

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Congenital hearing loss is one of the most common birth defects. Early identification and management play a crucial role in improving patients’ communication and language acquisition. Previous studies demonstrated that genetic screening complements newborn hearing screening in clinical settings. We developed a multiplex PCR amplicon sequencing assay to sequence the full coding region of the GJB2 gene, the most pathogenic variants of the SLC26A4 gene, and hotspot variants in the MT-RNR1 gene. The sensitivity, specificity, and reliability were validated via samples with known genotypes. Finally, a pilot study was performed on 300 anonymous dried blood samples. Of 103 samples with known genotypes, the multiplex PCR amplicon sequencing assay accurately identified all the variants, demonstrating a 100% sensitivity and specificity. The consistency is high in the analysis of the test–retest reliability and internal consistency reliability. In the pilot study, 12.3% (37/300) of the newborns were found to carry at least one pathogenic variant, including 24, 10, and 3 from the GJB2, SLC26A4, and MT-RNR1 gene, respectively. With an allele frequency of 2.2%, the NM_004004.6(GJB2):c.109GA was the most prevalent variant in the study population. The multiplex PCR amplicon sequencing assay is an accurate and reliable test to detect hearing loss variants in the GJB2, SLC26A4, and MT-RNR1 genes. It can be used to screen genetic hearing loss in newborns.
机译：先天性听力损失是最常见的出生缺陷之一。早期识别和管理在提高患者的沟通和语言习得方面发挥着至关重要的作用。以前的研究表明，遗传筛查在临床环境中补充了新生儿听力筛查。我们开发了一种多重PCR扩增子测序测定，以序列GJB2基因的全编码区域，SLC26A4基因的最致病变体，以及MT-RNR1基因中的热点变体。通过具有已知基因型的样本验证敏感性，特异性和可靠性。最后，对300个匿名干燥的血液样品进行试验研究。在具有已知基因型的103个样品中，多重PCR扩增子测序测定精确鉴定了所有变体，展示了100％的敏感性和特异性。在分析测试 - 保持性可靠性和内部一致性可靠性的分析中，该一致性很高。在试验研究中，发现12.3％（37/300）的新生儿分别从GJB2，SLC26A4和MT-RNR1基因携带至少一种致病变体，包括24,10和3。等位基因频率为2.2％，NM_004004.6（GJB2）：C.109G＆GT; A是研究人群中最普遍的变种。多重PCR扩增子测序测定是一种准确且可靠的测试，用于检测GJB2，SLC26A4和MT-RNR1基因中的听力损失变体。它可用于筛查新生儿的遗传听力损失。

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