RIKEN Center for Life Science Technologies


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Labs & Technologies

Genetic Diagnosis Technology Unit

We try to develop gene diagnosis system based on biological genomic information for human diseases and infectious diseases.


* Due to the reorganization starting as new centers in April 2018, this laboratory is now belong to the Center for Integrative Medical Sciences. As for the latest information, please see the following URL below.
> The webpage of Genetic Diagnosis Technology Unit, Center for Integrative Medical Sciences

Unit Leader
Kengo Usui  Ph.D.

1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045 JAPAN


Research Area

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. We will develop technologies 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 Publications List


Effect of thiazole orange doubly labeled thymidine on DNA duplex formation.

Kimura Y, Hanami T, Tanaka Y, de Hoon MJ, Soma T, Harbers M, Lezhava A, Hayashizaki Y, Usui K.
Biochemistry, 51(31), 6056-6067 (2012).

One-step detection of the 2009 pandemic influenza A(H1N1) virus by the RT-SmartAmp assay and its clinical validation.

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, Ishikawa T.
PLoS One, 7(1), e30236 (2012).

Effects of the turn-back primer on intermediate product generation in isothermal DNA amplification.

Tanaka Y, Kimura Y, Mitani Y, Kawai Y, Lezhava A, Noma S, Tagami M, Kawai J, Hayashizaki Y, Usui K.
Biotechniques, 49(6), 888-892 (2010).

Reversible hydrogel formation driven by protein-peptide-specific interaction and chondrocyte entrapment.

Ito F, Usui K, Kawahara D, Suenaga A, Maki T, Kidoaki S, Suzuki H, Taiji M, Itoh M, Hayashizaki Y, Matsuda T.
Biomaterials, 31(1), 58-66 (2010).

Development of a high-throughput method for the systematic identification of human proteins nuclear translocation potential.

Hoat TX, Bertin N, Ninomiya N, Fukuda S, Usui K, Kawai J, Hayashizaki Y, Suzuki H.
BMC Cell Biol, 10, 69 (2009).

Nanoscale elongating control of the self-assembled protein filament with the cysteine-introduced building blocks.

Usui K, Maki T, Ito F, Suenaga A, Kidoaki S, Itoh M, Taiji M, Matsuda T, Hayashizaki Y, Suzuki H.
Protein Sci, 18(5), 960-969 (2009).

Role of survival motor neuron complex components in small nuclear ribonucleoprotein assembly.

Ogawa C, Usui K, Ito F, Itoh M, Hayashizaki Y, Suzuki H.
J Biol Chem, 284(21), 14609-14617 (2009).

Rapid screening assay for KRAS mutations by the modified smart amplification process.

Tatsumi K, Mitani Y, Watanabe J, Takakura H, Hoshi K, Kawai Y, Kikuchi T, Kogo Y, Oguchi-Katayama A, Tomaru Y, Kanamori H, Baba M, Ishidao T, Usui K, Itoh M, Cizdziel PE, Lezhava A, Ueda M, Ichikawa Y, Endo I, Togo S, Shimada H, Hayashizaki Y.
J Mol Diagn, 10(6), 520-526 (2008).

Sensitive detection of EGFR mutations using a competitive probe to suppress background in the SMart Amplification Process.

Kawai Y, Kikuchi T, Mitani Y, Kogo Y, Itoh M, Usui K, Kanamori H, Kaiho A, Takakura H, Hoshi K, Cizdziel PE, Hayashizaki Y.
Biologicals, 36(4), 234-238 (2008).

Use of a competitive probe in assay design for genotyping of the UGT1A1 *28 microsatellite polymorphism by the smart amplification process.

Watanabe J, Mitani Y, Kawai Y, Kikuchi T, Kogo Y, Oguchi-Katayama A, Kanamori H, Usui K, Itoh M, Cizdziel PE, Lezhava A, Tatsumi K, Ichikawa Y, Togo S, Shimada H, Hayashizaki Y.
Biotechniques, 43(4), 479-484 (2007).

Member  *concurrent


CLST was reorganized into three centers according to the RIKEN 4th Medium-Term Plan from April 1, 2018. For the latest information of Genetic Diagnosis Technology Unit, please visit the following websites.

> The webpage of Genetic Diagnosis Technology Unit, Center for Integrative Medical Sciences [http://www.ims.riken.jp/labo/67/index.html]