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MinION 作为一种具有成本效益的技术,可用于癫痫患者 SCN1A 基因的诊断筛查。

The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.

机构信息

Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia; Department of Physiology, Hue University of Medicine and Pharmacy, Hue University, Hue, Viet Nam.

Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia; Hunter Medical Research Institute, School of Biomedical Sciences, Newcastle, Australia.

出版信息

Epilepsy Res. 2021 May;172:106593. doi: 10.1016/j.eplepsyres.2021.106593. Epub 2021 Feb 27.

Abstract

The MinION is a portable DNA sequencer that allows real time sequencing at low capital cost investment. We assessed accuracy and cost-effectivess of the MinION for genetic diagnostic testing of known SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons for 8 exons were sequenced using the MinION with 1D chemistry on an R9.4 flow cell. All known missense mutations were detected in all samples showing 100 % concordance with results from other methods. However, the MinION failed to detect the insertions/deletions (INDELs) present in these patients. Nevertheless, these results indicate that MinION is a cost-effective platform for use as an initial screening step in the detection of nucleotide substitution mutations in in SCN1A, especially in under-resourced laboratories or hospitals. Further improvements are required to reliably detect INDELS in this gene.

摘要

MinION 是一款便携式 DNA 测序仪,可在低资本成本投资下实现实时测序。我们评估了 MinION 在用于检测导致 Dravet 综合征 (DS) 的已知 SCN1A 突变的遗传诊断测试中的准确性和成本效益。使用 MinION 对先前通过 Ion Torrent 和 Sanger 测序显示携带 SCN1A 突变的 DS 患者的 DNA 样本(n=7)进行了测序。使用 MinION 和 1D 化学在 R9.4 流动池上对 8 个外显子的 SCN1A 扩增子进行了测序。在所有样本中均检测到了所有已知的错义突变,与其他方法的结果完全一致。然而,MinION 未能检测到这些患者中存在的插入/缺失 (INDELs)。尽管如此,这些结果表明 MinION 是一种具有成本效益的平台,可作为在 SCN1A 中检测核苷酸取代突变的初始筛选步骤使用,特别是在资源有限的实验室或医院中。需要进一步改进才能可靠地检测该基因中的 INDELs。

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