WO1997024974A3 - Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene - Google Patents

Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene Download PDF

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Publication number
WO1997024974A3
WO1997024974A3 PCT/CA1997/000006 CA9700006W WO9724974A3 WO 1997024974 A3 WO1997024974 A3 WO 1997024974A3 CA 9700006 W CA9700006 W CA 9700006W WO 9724974 A3 WO9724974 A3 WO 9724974A3
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WO
WIPO (PCT)
Prior art keywords
diagnosis
tumor suppressor
von hippel
methods
lindau tumor
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.)
Ceased
Application number
PCT/CA1997/000006
Other languages
French (fr)
Other versions
WO1997024974A2 (en
Inventor
May Hui
James M Dunn
John K Stevens
Denis Capatos
David E Matthews
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.)
Visible Genetics Inc
Original Assignee
Visible Genetics Inc
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 Visible Genetics Inc filed Critical Visible Genetics Inc
Priority to CA 2240831 priority Critical patent/CA2240831A1/en
Priority to AU11875/97A priority patent/AU1187597A/en
Priority to EP97900057A priority patent/EP0871779A2/en
Publication of WO1997024974A2 publication Critical patent/WO1997024974A2/en
Publication of WO1997024974A3 publication Critical patent/WO1997024974A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4702—Regulators; Modulating activity
    • C07K14/4703—Inhibitors; Suppressors
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K16/00—Immunoglobulins [IG], e.g. monoclonal or polyclonal antibodies
    • C07K16/18—Immunoglobulins [IG], e.g. monoclonal or polyclonal antibodies against material from animals or humans
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification
    • 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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • C12Q2600/16—Primer sets for multiplex assays

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

The instant invention relates to methods and products for the diagnosis of mutations in the von Hippel-Lindau tumor suppressor gene. More specifically, the products are DNA oligonucleotides for use in amplifying and sequencing genomic DNA and kits including these oligonucleotides. The method of the invention relates to a hierarchical system for cost-effective diagnosis of von Hippel-Lindau tumor suppressor disease-associated mutations.
PCT/CA1997/000006 1996-01-05 1997-01-06 Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene Ceased WO1997024974A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
CA 2240831 CA2240831A1 (en) 1996-01-05 1997-01-06 Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene
AU11875/97A AU1187597A (en) 1996-01-05 1997-01-06 Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene
EP97900057A EP0871779A2 (en) 1996-01-05 1997-01-06 Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US58328996A 1996-01-05 1996-01-05
US08/583,289 1996-01-05
US08/699,628 US6013436A (en) 1994-07-08 1996-08-19 Compositions and methods for diagnosis of mutation in the von Hippel-Lindau tumor suppressor gene
US08/699,628 1996-08-19

Publications (2)

Publication Number Publication Date
WO1997024974A2 WO1997024974A2 (en) 1997-07-17
WO1997024974A3 true WO1997024974A3 (en) 1997-11-27

Family

ID=27078778

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/CA1997/000006 Ceased WO1997024974A2 (en) 1996-01-05 1997-01-06 Compositions and methods for diagnosis of mutation in the von hippel-lindau tumor suppressor gene

Country Status (4)

Country Link
US (1) US6013436A (en)
EP (1) EP0871779A2 (en)
AU (1) AU1187597A (en)
WO (1) WO1997024974A2 (en)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6265152B1 (en) 1995-12-22 2001-07-24 Visible Genetics Inc. Method and kit for evaluation of HIV mutations
US6830887B2 (en) 1997-03-18 2004-12-14 Bayer Healthcare Llc Method and kit for quantitation and nucleic acid sequencing of nucleic acid analytes in a sample
WO1999016910A1 (en) * 1997-09-26 1999-04-08 Visible Genetics Inc. Method and kit for evaluation of hiv mutations
CN1323818A (en) * 2000-05-16 2001-11-28 上海博德基因开发有限公司 New polypeptide-human tumor suppressor factor 14 and polynucleotides for coding same
CN1326977A (en) * 2000-06-07 2001-12-19 上海博德基因开发有限公司 New polypeptide-human tumor suppressor gene 11.77 and polynucleotide for encoding such polypeptide
WO2002012567A1 (en) * 2000-08-09 2002-02-14 Dzgenes, Llc Vhl promoter diagnostic polymorphism
US6713257B2 (en) * 2000-08-25 2004-03-30 Rosetta Inpharmatics Llc Gene discovery using microarrays
US7523043B2 (en) * 2004-04-06 2009-04-21 Mk Consulting, Inc. System for minimizing the cost of post-treatment follow-up and diagnostic tests
WO2009123764A2 (en) 2008-04-04 2009-10-08 Calando Pharmaceuticals, Inc. Compositions and use of epas1 inhibitors
CN110070910B (en) * 2019-04-26 2023-04-18 复旦大学附属华山医院 Hemangioblastoma patient typing management system

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1994026894A1 (en) * 1993-05-14 1994-11-24 The Government Of The United States Of America As VON HIPPEL-LINDAU (VHL) DISEASE GENE AND CORRESPONDING cDNA AND METHODS FOR DETECTING CARRIERS OF THE VHL DISEASE GENE
WO1996001909A1 (en) * 1994-07-08 1996-01-25 Visible Genetics Inc. METHOD, REAGENTS AND KIT FOR DIAGNOSIS AND TARGETED SCREENING FOR p53 MUTATIONS

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5550020A (en) * 1994-07-08 1996-08-27 Visible Genetics Inc. Method, reagents and kit for diagnosis and targeted screening for retinoblastoma
US5545527A (en) * 1994-07-08 1996-08-13 Visible Genetics Inc. Method for testing for mutations in DNA from a patient sample

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1994026894A1 (en) * 1993-05-14 1994-11-24 The Government Of The United States Of America As VON HIPPEL-LINDAU (VHL) DISEASE GENE AND CORRESPONDING cDNA AND METHODS FOR DETECTING CARRIERS OF THE VHL DISEASE GENE
WO1996001909A1 (en) * 1994-07-08 1996-01-25 Visible Genetics Inc. METHOD, REAGENTS AND KIT FOR DIAGNOSIS AND TARGETED SCREENING FOR p53 MUTATIONS

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
CHEN F ET AL: "Germline mutations in Von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype", HUMAN MUTATION, vol. 5, no. 1, 1995, pages 66 - 75, XP000677115 *
DECKER H ET AL: "Molecular and cytogenetic studies on sporadic and familial forms of renal cell carcinomas: Detection of homozygous loss of the Von Hippel-Lindau tumor suppressor gene by cytogenetics, PCR-SSCP, FISH with 3P YAC probes and CGH", CANCER GENET. CYTOGENET, vol. 84, no. 2, February 1995 (1995-02-01), pages 130, XP000677164 *
SUN Y ET AL: "The Von Hippel-Lindau (VHL) disease tumor -suppressor gene is not mutated in Nasopharyngeal carcinomas", INTERNATIONAL JOURNAL OF CANCER, vol. 60, May 1995 (1995-05-01), pages 437 - 38, XP000677121 *

Also Published As

Publication number Publication date
US6013436A (en) 2000-01-11
WO1997024974A2 (en) 1997-07-17
EP0871779A2 (en) 1998-10-21
AU1187597A (en) 1997-08-01

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