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WO1997015688A1 - Nouveau marqueur diagnostique pour l'epissage de genes associes a la fonction neurologique - Google Patents

Nouveau marqueur diagnostique pour l'epissage de genes associes a la fonction neurologique Download PDF

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Publication number
WO1997015688A1
WO1997015688A1 PCT/US1996/017128 US9617128W WO9715688A1 WO 1997015688 A1 WO1997015688 A1 WO 1997015688A1 US 9617128 W US9617128 W US 9617128W WO 9715688 A1 WO9715688 A1 WO 9715688A1
Authority
WO
WIPO (PCT)
Prior art keywords
motif
vrxq
leu
val
ala
Prior art date
Application number
PCT/US1996/017128
Other languages
English (en)
Other versions
WO1997015688A9 (fr
Inventor
John A. Hardy
Alison M. Goate
Original Assignee
Washington University School Of Medicine
University Of South Florida
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 Washington University School Of Medicine, University Of South Florida filed Critical Washington University School Of Medicine
Priority to JP9516125A priority Critical patent/JPH11513570A/ja
Priority to EP96937747A priority patent/EP0859862A4/fr
Priority to AU75216/96A priority patent/AU7521696A/en
Priority to CA 2235593 priority patent/CA2235593A1/fr
Publication of WO1997015688A1 publication Critical patent/WO1997015688A1/fr
Publication of WO1997015688A9 publication Critical patent/WO1997015688A9/fr

Links

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
    • 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

Definitions

  • hnRNA reverse complementary heteronuclear RNA
  • AACACATGAA AGAAAGAACC TCAAGAGGCT TTGTTTTCTG TGAAACAGTA 200

Landscapes

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

Abstract

L'invention concerne des méthodes de détection de la présence ou l'absence d'un motif à quatre acides aminés (VRXQ) dans des protéines exprimées issues d'un épissage alterne aberrant de pré-ARNm dans des gènes associés à la fonction neurologique normale. La présence de ces variantes d'épissage suggère que des mutations se sont produites dans ces gènes. Des séquences nucléotidiques et des séquence de jonction intron-exon des exemples de variantes d'épissage sont également décrites.
PCT/US1996/017128 1995-10-25 1996-10-25 Nouveau marqueur diagnostique pour l'epissage de genes associes a la fonction neurologique WO1997015688A1 (fr)

Priority Applications (4)

Application Number Priority Date Filing Date Title
JP9516125A JPH11513570A (ja) 1995-10-25 1996-10-25 神経学的機能に関連した遺伝子のスプライシング変種についての新規診断マーカー
EP96937747A EP0859862A4 (fr) 1995-10-25 1996-10-25 Nouveau marqueur diagnostique pour l'epissage de genes associes a la fonction neurologique
AU75216/96A AU7521696A (en) 1995-10-25 1996-10-25 Novel diagnostic marker for splicing variants of genes associated with neurological function
CA 2235593 CA2235593A1 (fr) 1995-10-25 1996-10-25 Nouveau marqueur diagnostique pour l'epissage de genes associes a la fonction neurologique

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US704595P 1995-10-25 1995-10-25
US60/007,045 1995-10-25

Publications (2)

Publication Number Publication Date
WO1997015688A1 true WO1997015688A1 (fr) 1997-05-01
WO1997015688A9 WO1997015688A9 (fr) 1997-06-26

Family

ID=21723903

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US1996/017128 WO1997015688A1 (fr) 1995-10-25 1996-10-25 Nouveau marqueur diagnostique pour l'epissage de genes associes a la fonction neurologique

Country Status (5)

Country Link
EP (1) EP0859862A4 (fr)
JP (1) JPH11513570A (fr)
AU (1) AU7521696A (fr)
WO (1) WO1997015688A1 (fr)
ZA (1) ZA968899B (fr)

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0814157A3 (fr) * 1996-06-18 1998-01-07 Smithkline Beecham Corporation Marqueur diagnostique pour variations des gènes codant presenilin en association avec la maladie d'Alzheimer et familial adulte apparition de la maladie d'Alzheimer
WO2000047765A1 (fr) * 1999-02-08 2000-08-17 Marie Curie Cancer Care Materiaux et procedes relatifs a la detection de marqueurs de cellules cancereuses

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0791660A1 (fr) * 1996-02-22 1997-08-27 Smithkline Beecham Corporation Nouveau marqueur diagnostique pour variations d'épissage de gènes en association avec fonctions neurologiques
EP0814157A3 (fr) * 1996-06-18 1998-01-07 Smithkline Beecham Corporation Marqueur diagnostique pour variations des gènes codant presenilin en association avec la maladie d'Alzheimer et familial adulte apparition de la maladie d'Alzheimer

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
BIOCHEM. SOC. TRANS., February 1991, Volume 19, Number 1, LASHAM et al., "Alternative Splicing Increases GABAA Receptor Heterogeneity", page 9S. *
JOURNAL OF NEUROCHEM., Volume 56, Number 4, April 1991, BATESON et al., "Gamma-Aminobutyric AcidA Receptor Heterogeneity is Increased by Alternative Splicing of a Novel Beta-Subunit Gene Transcript", pages 1437-1440. *
See also references of EP0859862A4 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0814157A3 (fr) * 1996-06-18 1998-01-07 Smithkline Beecham Corporation Marqueur diagnostique pour variations des gènes codant presenilin en association avec la maladie d'Alzheimer et familial adulte apparition de la maladie d'Alzheimer
WO2000047765A1 (fr) * 1999-02-08 2000-08-17 Marie Curie Cancer Care Materiaux et procedes relatifs a la detection de marqueurs de cellules cancereuses

Also Published As

Publication number Publication date
ZA968899B (en) 1998-07-23
EP0859862A1 (fr) 1998-08-26
JPH11513570A (ja) 1999-11-24
EP0859862A4 (fr) 1998-11-11
AU7521696A (en) 1997-05-15

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