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
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
Original Assignee
Whitehead Biomedical Inst
Millennium Pharm 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 Whitehead Biomedical Inst, Millennium Pharm Inc filed Critical Whitehead Biomedical Inst
Priority to EP00959964A priority Critical patent/EP1240354A2/en
Priority to AU71194/00A priority patent/AU7119400A/en
Publication of WO2001018250A2 publication Critical patent/WO2001018250A2/en
Publication of WO2001018250A3 publication Critical patent/WO2001018250A3/en

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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
    • 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, 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

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 WO2001018250A2 (en)

Priority Applications (2)

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

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)
EP1403380A1 (en) * 2002-09-27 2004-03-31 Integragen Human obesity susceptibility gene and uses thereof
ATE412778T1 (en) * 2002-05-15 2008-11-15 Integragen Sa HUMAN OBESITY SUSCEPTIBILITY GENES AND THEIR USES
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
JP5479663B2 (en) * 2002-12-20 2014-04-23 セレラ コーポレーション Genetic polymorphism associated with myocardial infarction, detection method and use thereof
CA2555259A1 (en) * 2004-02-27 2005-09-09 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
CN102154272B (en) * 2006-11-30 2014-03-12 爱科来株式会社 Primer set for amplification of obesity gene, reagent for amplification of obesity gene comprising primer set, and use of primer set
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 *

Also Published As

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

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