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WO1997030178A3 - Diagnostic des maladies a repetition trinucleotidique et genes impliques dans ces maladies - Google Patents

Diagnostic des maladies a repetition trinucleotidique et genes impliques dans ces maladies Download PDF

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Publication number
WO1997030178A3
WO1997030178A3 PCT/FR1997/000297 FR9700297W WO9730178A3 WO 1997030178 A3 WO1997030178 A3 WO 1997030178A3 FR 9700297 W FR9700297 W FR 9700297W WO 9730178 A3 WO9730178 A3 WO 9730178A3
Authority
WO
WIPO (PCT)
Prior art keywords
diagnosing
trinucleotide repeat
genes involved
repeat diseases
sequences
Prior art date
Application number
PCT/FR1997/000297
Other languages
English (en)
Other versions
WO1997030178A2 (fr
Inventor
Christian Neri
Howard M Cann
Daniel Cohen
Original Assignee
Fondation Jean Dausset Ceph
Christian Neri
Howard M Cann
Daniel Cohen
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 Fondation Jean Dausset Ceph, Christian Neri, Howard M Cann, Daniel Cohen filed Critical Fondation Jean Dausset Ceph
Priority to JP9529061A priority Critical patent/JP2000505293A/ja
Priority to EP97905219A priority patent/EP0894144A2/fr
Publication of WO1997030178A2 publication Critical patent/WO1997030178A2/fr
Publication of WO1997030178A3 publication Critical patent/WO1997030178A3/fr

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    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/14—Drugs for disorders of the nervous system for treating abnormal movements, e.g. chorea, dyskinesia
    • A61P25/16—Anti-Parkinson drugs
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • A61P27/06—Antiglaucoma agents or miotics
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • A61P27/12—Ophthalmic agents for cataracts
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00—Drugs for disorders of the blood or the extracellular fluid
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00—Drugs for disorders of the blood or the extracellular fluid
    • A61P7/06—Antianaemics
    • 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

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Ophthalmology & Optometry (AREA)
  • Neurosurgery (AREA)
  • Biomedical Technology (AREA)
  • Neurology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Hematology (AREA)
  • Diabetes (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Psychology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Pathology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Peptides Or Proteins (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)

Abstract

La présente invention concerne une séquence d'ADN transcrit et riche en triplet répété CAG ou CTG correspondant aux séquences A à I selon le tableau ainsi que leurs allèles et les séquences complémentaires. Ces séquences sont utiles notamment dans le diagnostic des maladies à répétition trinucléotidique.
PCT/FR1997/000297 1996-02-15 1997-02-17 Diagnostic des maladies a repetition trinucleotidique et genes impliques dans ces maladies WO1997030178A2 (fr)

Priority Applications (2)

Application Number Priority Date Filing Date Title
JP9529061A JP2000505293A (ja) 1996-02-15 1997-02-17 トリヌクレオチド反復病の診断とこの病気に関係する遺伝子
EP97905219A EP0894144A2 (fr) 1996-02-15 1997-02-17 Diagnostic des maladies a repetition trinucleotidique et genes impliques dans ces maladies

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
FR9601864A FR2745007B1 (fr) 1996-02-15 1996-02-15 Diagnostic des maladies a repetition trinucleotidique et genes impliques dans ces maladies
FR96/01864 1996-02-15

Publications (2)

Publication Number Publication Date
WO1997030178A2 WO1997030178A2 (fr) 1997-08-21
WO1997030178A3 true WO1997030178A3 (fr) 1997-10-16

Family

ID=9489220

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/FR1997/000297 WO1997030178A2 (fr) 1996-02-15 1997-02-17 Diagnostic des maladies a repetition trinucleotidique et genes impliques dans ces maladies

Country Status (5)

Country Link
EP (1) EP0894144A2 (fr)
JP (1) JP2000505293A (fr)
CA (1) CA2246362A1 (fr)
FR (1) FR2745007B1 (fr)
WO (1) WO1997030178A2 (fr)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
FR2764611B1 (fr) * 1997-06-11 2002-02-01 Fond Jean Dausset Ceph Sequences d'adn riches en triplet repete utiles dans le diagnostic de maladies a repetition trinucleotidique
KR20030013019A (ko) * 2001-08-06 2003-02-14 주식회사 바이오메드랩 삼핵산 반복서열 증가질환용 진단키트 및 진단장치

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993016197A1 (fr) * 1992-02-06 1993-08-19 University Of Wales College Of Medicine Materiaux et sequences de nucleotides et procedes pour le diagnostic de la myotonie dystrophique
WO1993016196A2 (fr) * 1992-02-18 1993-08-19 The University Of Ottawa Dystrophie myotonique
WO1995001437A2 (fr) * 1993-06-29 1995-01-12 Regents Of The University Of Minnesota Sequence de genes de l'ataxie spino-cerebelleuse du type 1 et procede de diagnostic

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993016197A1 (fr) * 1992-02-06 1993-08-19 University Of Wales College Of Medicine Materiaux et sequences de nucleotides et procedes pour le diagnostic de la myotonie dystrophique
WO1993016196A2 (fr) * 1992-02-18 1993-08-19 The University Of Ottawa Dystrophie myotonique
WO1995001437A2 (fr) * 1993-06-29 1995-01-12 Regents Of The University Of Minnesota Sequence de genes de l'ataxie spino-cerebelleuse du type 1 et procede de diagnostic

Non-Patent Citations (9)

* Cited by examiner, † Cited by third party
Title
C. NERI ET AL.: "Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological diseases", HUMAN MOLECULAR GENETICS, vol. 5, no. 7, July 1996 (1996-07-01), OXFORD GB, pages 1001 - 1009, XP000763216 *
EMBL Nucleotide Sequence Data Bank Ac. No.: Emest3:Hs39047, 01 Avril 1995, L. Hillier et al. *
EMBL Nucleotide Sequence Data Bank Ac. Nr.: Emest2:Hs24911, 24 Mai 1995, L. Hillier et al. *
EMBL Nucleotide Sequence Data Bank Ac. Nr.: Emest5:Hst49359, 3 Mars 1995, L. Hillier et al., *
EMBL Nucleotide Sequence Data Bank, Ac. Nr.: Emest3:Hs517168, 7 Juillet 1995, L. Hillier et al., *
EMBL Nucleotide Sequence Data Bank, Ac. Nr.: Emest3:Hs58086, 22 Avril 1995, L. Hillier et al., *
EMBL Nucleotide Sequence Data Bank, Ac. Nr.: Emsts:Hs543187, 17 Aout 1995, J. Murray et al., *
G.J. RIGGINS ET AL.: "Human genes containing polymorphic trinucleotide repeats", NATURE GENETICS, vol. 2, no. 3, November 1992 (1992-11-01), OXFORD GB, pages 186 - 191, XP000196593 *
S.H. LI ET AL.: "Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms", GENOMICS, vol. 16, no. 3, June 1993 (1993-06-01), US, pages 572 - 579, XP000196589 *

Also Published As

Publication number Publication date
EP0894144A2 (fr) 1999-02-03
FR2745007A1 (fr) 1997-08-22
JP2000505293A (ja) 2000-05-09
CA2246362A1 (fr) 1997-08-21
FR2745007B1 (fr) 1998-05-07
WO1997030178A2 (fr) 1997-08-21

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