Minority mutation detection based on photoreactive probe technology

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Abstract

Patients with the T790M mutation in the epidermal growth facter receptor (EGFR) gene are known to acquire resistance to gefitinib. Early detection of this EGFR polymorphism is important for preventing the side effects of gefitinib as well as for considering alternative treatments. In this study, we developed a highly sensitive technique based on photoreactive probes (PREPs) for the detection of single-nucleotide polymorphisms; we detected 2369C > T (T790M) mutation of the EGFR gene by this technique. Our method has a polymerase chain reaction (PCR) clamping efficiency of -99 % and can be applied to virtually all targets. The proposed optical clamping approach is very useful as a simple and efficient pre-treatment method for samples containing only trace amounts of the mutated genes. This method has a potential to be widely used for highly sensitive point-mutation detection.

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Wakamatsu, H., Terasaki, H., & Shimadzu, M. (2017). Minority mutation detection based on photoreactive probe technology. Bunseki Kagaku, 66(6), 445–451. https://doi.org/10.2116/bunsekikagaku.66.445

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