1. Home
  2. Research
  3. Centers & Labs
  4. RIKEN Center for Integrative Medical Sciences

RIKEN Center for Integrative Medical Sciences Genetic Diagnosis Technology Unit

Unit Leader: Kengo Usui (Ph.D.)

Research Summary

Kengo  Usui(Ph.D.)

As the biological marker for genetic diagnosis of personalized medicine, genotyping of specific SNP related to a disease is commonly used. As a novel candidate, there is RNA marker (mRNA, siRNA and ncRNA) depended on difference of individual expression.
To obtain genetic information, "nucleic acid amplification method" that amplifies trace amount of DNA and RNA is important. We have developed "SmartAmp method" which achieves rapid nucleic acid amplification by warming at isothermal temperature and "Eprobe" which is a fluorescent probe for obtaining a specific signal from the amplified nucleic acid. By applying these technologies, we will pave for new genetic diagnostic tool to identify marker DNA and RNAs (like single nucleotide polymorphisms (SNPs) and/or RNAs that act as markers) in simple assays that take only few minutes with simplified and reliable technologies, which do not necessitate complicated analytical instruments.

Main Research Fields

  • Biological Sciences

Related Research Fields

  • Medicine, Dentistry & Pharmacy


  • Genetic Diagnosis
  • Nucleic acid amplification
  • Infectious diseases detecting technology
  • SNP genotyping
  • Somatic mutation detection

Selected Publications

Papers with an asterisk(*) are based on research conducted outside of RIKEN.

  • 1.*Takase, Y., Usui, K., Shimizu, K., Kimura, Y., Ichihara, T., Ohkawa, T., Atsumi, J., Enokida, Y., Nakazawa, S., Obayashi, K., Ohtaki, Y., Nagashima, T., Mitani, Y., and Takeyoshi, I.:
    "Highly sensitive detection of a HER2 12-base pair duplicated insertion mutation in lung cancer using the Eprobe-PCR method."
    PLoS One. 12, e0171225 (2017).
  • 2.*Enokida, Y., Shimizu, K., Atsumi, J., Kakegawa, S., Takase, Y., Kaira, K., Yashima, H., Araki, T., Nakazawa, S., Ohtaki, Y., Nagashima, T., Alexander, L., Usui, K., Ishikawa, T., Hayashizaki, Y., and Takeyoshi, I.:
    "Prognostic potential of the MDM2 309T>G polymorphism in stage I lung adenocarcinoma."
    Cancer Med. 5, 1791-801 (2016).
  • 3.*Kimura, Y., Soma, T., Kasahara, N., Delobel, D., Hanami, T., Tanaka, Y., de Hoon, MJ., Hayashizaki, Y., Usui, K., and Harbers, M.:
    "Edesign: Primer and Enhanced Internal Probe Design Tool for Quantitative PCR Experiments and Genotyping Assays."
    PLoS One. 11, e0146950 (2016).
  • 4.*Negishi, Y., Kawaji, H., Minoda, A., and Usui, K.:
    "Identification of chromatin marks at TERRA promoter and encoding region."
    Biochem Biophys Res Commun. 467, 1052-1057 (2015).
  • 5.*Atsumi, J., Hanami, T., Enokida, Y., Ogawa, H., Delobel, D., Mitani, Y., Kimura, Y., Soma, T., Tagami, M., Takase, Y., Ichihara, T., Takeyoshi, I., Usui, K., Hayashizaki, Y., and Shimizu K.:
    "Eprobe-mediated screening system for somatic mutations in the KRAS locus."
    Oncol Rep. 33, 2719-2727 (2015).
  • 6.*Enokida, Y., Shimizu, K., Kakegawa, S., Atsumi, J., Takase, Y., Miyamae, Y., Nagashima, T., Ohtaki, Y., Kaira, K., Sunaga, N., Yanagitani, N., Yoshino, R., Tsunekawa, K., Igai, H., Kamiyoshihara, M., Usui, K., Lezhava, A., Tomizawa, Y., Ishikawa, T., Murakami, M., Hayashizaki, Y., and Takeyoshi I.:
    "Single-nucleotide polymorphism (c.309T>G) in the MDM2 gene and lung cancer risk."
    Biomed Rep. 2, 719-724 (2014).
  • 7.*Hanami, T., Delobel, D., Kanamori, H., Tanaka, Y., Kimura, Y., Nakasone, A., Soma, T., Hayashizaki, Y., Usui, K., and Harbers, M.:
    "Eprobe mediated real-time PCR monitoring and melting curve analysis."
    PLoS One. 8, e70942 (2013).
  • 8.*Enokida, Y., Shimizu, K., Atsumi, J., Lezhava, A., Tanaka, Y., Kimura, Y,, Soma, T., Hanami, T., Kawai, Y., Usui, K., Okano, Y., Kakegawa, S., Ogawa, H., Miyamae, Y., Miyagi, Y., Nakayama, H., Ishikawa, T., Hayashizaki, Y., and Takeyoshi I.:
    "Rapid detection of SNP (c.309T>G) in the MDM2 gene by the Duplex SmartAmp method."
    PLoS One. 8, e60151 (2013).
  • 9.*Kimura, Y., Hanami, T., Tanaka, Y., De Hoon, MJ., Soma, T., Harbers, M., Lezhava, A., Hayashizaki, Y., and Usui, K.:
    "Effect of thiazole orage double-labeled thymidine on DNA duplex formation."
    Biochemistry, 51, 6056-6067 (2012).
  • 10.*Kawai, Y., Kimura, Y., Lezhava, A., Kanamori, H., Usui, K., Hanami, T., Soma, T., Morlighem, JÉ., Saga, S., Ishizu, Y., Aoki, S., Endo, R., Oguchi-Katayama, A., Kogo, Y., Mitani, Y., Ishidao, T., Kawakami, C., Kurata, H., Furuya, Y., Saito, T., Okazaki, N., Chikahira, M., Hayashi, E., Tsuruoka, S., Toguchi, T., Saito, Y., Ban, T., Izumi, S., Uryu, H., Kudo, K., Sakai-Tagawa, Y., Kawaoka, Y., Hirai, A., Hayashizaki, Y., and Ishikawa, T.:
    "One-step detection of the 2009 pandemic influenza A(H1N1) virus by the RT-SmartAmp assay and its clinical validation."
    PLoS One, 7, e30236 (2012).

Related Links

Lab Members

Principal investigator

Kengo Usui
Unit Leader

Core members

Takeshi Hanami
Research Scientist
Yuki Tanaka
Research Scientist

Contact Information

1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan
Tel: +81-(0)45-503-9222
Fax: +81-(0)45-503-9216
Email: kengo.usui [at] riken.jp