WO2001018250A3 - Single nucleotide polymorphisms in genes - Google Patents

Single nucleotide polymorphisms in genes Download PDF

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Publication number
WO2001018250A3
WO2001018250A3 PCT/US2000/024503 US0024503W WO0118250A3 WO 2001018250 A3 WO2001018250 A3 WO 2001018250A3 US 0024503 W US0024503 W US 0024503W WO 0118250 A3 WO0118250 A3 WO 0118250A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene
single nucleotide
nucleotide polymorphisms
development
nucleic acid
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/US2000/024503
Other languages
French (fr)
Other versions
WO2001018250A2 (en
Inventor
Eric S Lander
Michele Gargill
James S Ireland
Stacey Bolk
George Q Daley
Jeanette J Mccarthy
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.)
Millennium Pharmaceuticals Inc
Whitehead Institute for Biomedical Research
Original Assignee
Millennium Pharmaceuticals Inc
Whitehead Institute for Biomedical Research
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 Millennium Pharmaceuticals Inc, Whitehead Institute for Biomedical Research filed Critical Millennium Pharmaceuticals Inc
Priority to AU71194/00A priority Critical patent/AU7119400A/en
Priority to EP00959964A priority patent/EP1240354A2/en
Publication of WO2001018250A2 publication Critical patent/WO2001018250A2/en
Anticipated expiration legal-status Critical
Publication of WO2001018250A3 publication Critical patent/WO2001018250A3/en
Ceased legal-status Critical Current

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
    • 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
    • C07K14/78—Connective tissue peptides, e.g. collagen, elastin, laminin, fibronectin, vitronectin or cold insoluble globulin [CIG]
    • 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

Landscapes

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

Abstract

The invention provides nucleic acid segments of the human genome, particularly nucleic acid segments from a gene, including polymorphic sites. Allele-specific primers and probes hybridizing to regions flanking or containing these sites are also provided. The nucleic acids, primers and probes are used in applications such as phenotype correlations, forensics, paternity testing, medicine and genetic analysis. A role for the thrombospondin gene(s) in vascular disease is also disclosed. Use of single nucleotide polymorphisms in the thrombospondin gene(s) for diagnosis, prediction of clinical course and treatment response, development of therapeutics and development of cell-culture-based and animal models for research and treatment are disclosed.
PCT/US2000/024503 1999-09-10 2000-09-07 Single nucleotide polymorphisms in genes Ceased WO2001018250A2 (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
AU71194/00A AU7119400A (en) 1999-09-10 2000-09-07 Single nucleotide polymorphisms in genes
EP00959964A EP1240354A2 (en) 1999-09-10 2000-09-07 Single nucleotide polymorphisms in genes

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US15335799P 1999-09-10 1999-09-10
US60/153,357 1999-09-10
US22094700P 2000-07-26 2000-07-26
US60/220,947 2000-07-26
US22572400P 2000-08-16 2000-08-16
US60/225,724 2000-08-16

Publications (2)

Publication Number Publication Date
WO2001018250A2 WO2001018250A2 (en) 2001-03-15
WO2001018250A3 true WO2001018250A3 (en) 2002-07-25

Family

ID=27387432

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/024503 Ceased WO2001018250A2 (en) 1999-09-10 2000-09-07 Single nucleotide polymorphisms in genes

Country Status (3)

Country Link
EP (1) EP1240354A2 (en)
AU (1) AU7119400A (en)
WO (1) WO2001018250A2 (en)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7276536B2 (en) 2003-03-17 2007-10-02 Japan Tobacco Inc. Method for increasing the bioavailability of the active form of S-[2-([[1-(2-ethylbutyl)cyclohexyl]carbonyl]amino) phenyl] 2-methylpropanethioate

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB0000995D0 (en) * 2000-01-18 2000-03-08 Zeneca Ltd Methods
US6774209B1 (en) 2000-04-03 2004-08-10 Dyax Corp. Binding peptides for carcinoembryonic antigen (CEA)
ES2314206T3 (en) * 2002-05-15 2009-03-16 Integragen HUMAN GENE OF PREDISPOSITION TO OBESITY AND USES OF THE SAME.
EP1403380A1 (en) * 2002-09-27 2004-03-31 Integragen Human obesity susceptibility gene and uses thereof
JP4143756B2 (en) 2002-06-21 2008-09-03 財団法人名古屋産業科学研究所 Risk diagnosis method for myocardial infarction
CA2941594C (en) * 2002-12-20 2021-07-06 Celera Corporation Genetic polymorphisms of the protein receptor c (procr) associated with myocardial infarction, methods of detection and uses thereof
US20070059710A1 (en) * 2004-02-27 2007-03-15 Applera Corporation Genetic polymorphisms associated with stroke, methods of detection and uses thereof
WO2008018789A2 (en) * 2006-08-08 2008-02-14 Leiden University Medical Center Methods and means for diagnosing and treatment of osteoarthritis
JP5279492B2 (en) * 2006-11-30 2013-09-04 アークレイ株式会社 Obesity gene amplification primer set, obesity gene amplification reagent containing the same, and use thereof
EP2322656A1 (en) * 2009-11-17 2011-05-18 Centre National de la Recherche Scientifique (C.N.R.S) Methods for diagnosing skin diseases
US20130137111A1 (en) * 2010-07-26 2013-05-30 Astellas Pharma Inc. Detection method of novel ret fusion

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5750502A (en) * 1992-04-02 1998-05-12 The Trustees Of Columbia University In City Of New York Cloning, expression and uses of a secreted protein, F-spondin

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5750502A (en) * 1992-04-02 1998-05-12 The Trustees Of Columbia University In City Of New York Cloning, expression and uses of a secreted protein, F-spondin

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
FAN J ET AL: "Genetic mapping: Finding and analyzing single-nucleotide polymorphisms with high-density DNA arrays", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 61, no. 4, SUPPL, 1 October 1997 (1997-10-01), pages 1601, XP002089397, ISSN: 0002-9297 *
POLYMEROPOULOS M H ET AL: "DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN THROMBOSPONDIN GENE THBS1", NUCLEIC ACIDS RESEARCH, vol. 18, no. 24, 1990, pages 7467, XP002188932, ISSN: 0305-1048 *
WANG D G ET AL: "Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome", SCIENCE, AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE,, US, vol. 280, 1998, pages 1077 - 1082, XP002089398, ISSN: 0036-8075 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7276536B2 (en) 2003-03-17 2007-10-02 Japan Tobacco Inc. Method for increasing the bioavailability of the active form of S-[2-([[1-(2-ethylbutyl)cyclohexyl]carbonyl]amino) phenyl] 2-methylpropanethioate

Also Published As

Publication number Publication date
AU7119400A (en) 2001-04-10
WO2001018250A2 (en) 2001-03-15
EP1240354A2 (en) 2002-09-18

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