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Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2021-01-18 , DOI: 10.1089/gtmb.2020.0105
Yuichi Isaka 1 , Shin-Ya Nishio 1, 2 , Eiji Hishinuma 3, 4, 5 , Masahiro Hiratsuka 3, 4, 5 , Shin-Ichi Usami 1, 2
Affiliation  

Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would be desirable to prevent HL caused by aminoglycoside therapy. In this study, we report an improved protocol for the single-stranded tag hybridization chromatographic printed-array strip (STH-PAS) method for identifying the m.1555A>G mutation.

中文翻译:

基于单链标签杂交色谱印刷阵列条带的线粒体 m.1555A>G 突变快速高灵敏诊断方法的改进

目的:已知线粒体 DNA 的致病性变异与感音神经性听力损失 (SNHL) 和氨基糖苷类诱发的 HL 相关。其中,以m.1555A>G突变最为常见。因此,需要一种针对该突变的快速且简单的伴随诊断方法来预防由氨基糖苷类治疗引起的HL。在本研究中,我们报告了一种用于识别 m.1555A>G 突变的单链标签杂交色谱印刷阵列条 (STH-PAS) 方法的改进方案。
更新日期:2021-01-20
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