CA2338250C - Gene de la maladie de lafora - Google Patents

Gene de la maladie de lafora Download PDF

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Publication number
CA2338250C
CA2338250C CA2338250A CA2338250A CA2338250C CA 2338250 C CA2338250 C CA 2338250C CA 2338250 A CA2338250 A CA 2338250A CA 2338250 A CA2338250 A CA 2338250A CA 2338250 C CA2338250 C CA 2338250C
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CA
Canada
Prior art keywords
seq
mutation
nucleotide
nucleic acid
lafora
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Expired - Lifetime
Application number
CA2338250A
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English (en)
Other versions
CA2338250A1 (fr
Inventor
Stephen W. Scherer
Berge A. Minassian
Antonio Delgado-Escueta
Guy Rouleau
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
McGill University
Hospital for Sick Children
University of California, San Diego
Original Assignee
McGill University
Hospital for Sick Children
University of California, San Diego
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by McGill University, Hospital for Sick Children, University of California, San Diego filed Critical McGill University
Publication of CA2338250A1 publication Critical patent/CA2338250A1/fr
Application granted granted Critical
Publication of CA2338250C publication Critical patent/CA2338250C/fr
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Peptides Or Proteins (AREA)

Abstract

L'invention concerne un nouveau gène (EPM2A) délété ou muté chez les sujets atteints de la maladie de Lafora. Ce gène EPM2A code pour une protéine qui présente un site catalytique actif d'une tyrosine phosphatase protéique, de nombreuses mutations de séquences, ainsi que plusieurs micro-délétions de EPM2A, présentant une coségrégation avec la maladie de Lafora.
CA2338250A 1998-07-20 1999-07-20 Gene de la maladie de lafora Expired - Lifetime CA2338250C (fr)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US9349598P 1998-07-20 1998-07-20
US60/093,495 1998-07-20
US13026999P 1999-04-21 1999-04-21
US60/130,269 1999-04-21
PCT/CA1999/000646 WO2000005405A2 (fr) 1998-07-20 1999-07-20 Gene de la maladie de lafora

Publications (2)

Publication Number Publication Date
CA2338250A1 CA2338250A1 (fr) 2000-02-03
CA2338250C true CA2338250C (fr) 2012-02-21

Family

ID=26787605

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2338250A Expired - Lifetime CA2338250C (fr) 1998-07-20 1999-07-20 Gene de la maladie de lafora

Country Status (3)

Country Link
AU (1) AU4765599A (fr)
CA (1) CA2338250C (fr)
WO (1) WO2000005405A2 (fr)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6825328B1 (en) 1998-07-20 2004-11-30 Stephen W. Scherer Lafora's disease gene
JP5576010B2 (ja) 2003-08-04 2014-08-20 ザ・ホスピタル・フォー・シック・チルドレン ラフォラ病遺伝子
EP4421086A1 (fr) * 2023-02-23 2024-08-28 Fundacion Instituto De Investigacion Sanitaria Fundacion Jimenez Diaz Vecteur d'acide nucléique comprenant une séquence codante du gène epm2a

Also Published As

Publication number Publication date
AU4765599A (en) 2000-02-14
WO2000005405A3 (fr) 2000-05-11
WO2000005405A2 (fr) 2000-02-03
CA2338250A1 (fr) 2000-02-03

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