Title:
METHOD AND KIT FOR DETERMINING NEUROMUSCULAR DISEASE IN SUBJECT
Document Type and Number:
WIPO Patent Application WO/2020/222312
Kind Code:
A1
Abstract:
A method for determining a neuromuscular disease accompanied with a repeat expansion of CGG in a nucleic acid in a subject comprising detecting a repeat expansion of CGG or a complementary sequence thereof in a nucleic acid sample from the subject.
Inventors:
TSUJI SHOJI (JP)
ISHIURA HIROYUKI (JP)
ISHIURA HIROYUKI (JP)
Application Number:
PCT/JP2020/018412
Publication Date:
November 05, 2020
Filing Date:
May 01, 2020
Export Citation:
Assignee:
UNIV TOKYO (JP)
International Classes:
C12N15/09; C12Q1/6883; G01N33/50
Foreign References:
| US20120115140A1 | 2012-05-10 | |||
| US20140024035A1 | 2014-01-23 |
Other References:
DOI K. ET AL.: "Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing", BIOINFORMATICS, vol. 30, no. 6, 2014, pages 815 - 822, XP055227814, DOI: 10.1093/bioinformatics/btt647
TIAN Y. ET AL.: "Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders", THE AMERICAN JOURNAL OF HUMAN GENETICS, vol. 105, 6 June 2019 (2019-06-06), pages 166 - 176, XP085726461, DOI: 10.1016/j.ajhg.2019.05.013
ISHIURA H. ET AL.: "Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease", NATURE GENETICS, vol. 51, 22 July 2019 (2019-07-22), pages 1222 - 1232, XP036846847, DOI: 10.1038/s41588-019-0458-z
SONE J. ET AL.: "Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease", NATURE GENETICS, vol. 51, 22 July 2019 (2019-07-22), pages 1215 - 1221, XP036846845, DOI: 10.1038/s41588-019-0459-y
TIAN Y. ET AL.: "Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders", THE AMERICAN JOURNAL OF HUMAN GENETICS, vol. 105, 6 June 2019 (2019-06-06), pages 166 - 176, XP085726461, DOI: 10.1016/j.ajhg.2019.05.013
ISHIURA H. ET AL.: "Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease", NATURE GENETICS, vol. 51, 22 July 2019 (2019-07-22), pages 1222 - 1232, XP036846847, DOI: 10.1038/s41588-019-0458-z
SONE J. ET AL.: "Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease", NATURE GENETICS, vol. 51, 22 July 2019 (2019-07-22), pages 1215 - 1221, XP036846845, DOI: 10.1038/s41588-019-0459-y
Attorney, Agent or Firm:
INABA, Yoshiyuki et al. (JP)
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