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WO2000058519A3 - Charaterization of single nucleotide polymorphisms in coding regions of human genes - Google Patents

Charaterization of single nucleotide polymorphisms in coding regions of human genes Download PDF

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Publication number
WO2000058519A3
WO2000058519A3 PCT/US2000/008440 US0008440W WO0058519A3 WO 2000058519 A3 WO2000058519 A3 WO 2000058519A3 US 0008440 W US0008440 W US 0008440W WO 0058519 A3 WO0058519 A3 WO 0058519A3
Authority
WO
WIPO (PCT)
Prior art keywords
charaterization
single nucleotide
coding regions
nucleotide polymorphisms
human genes
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/US2000/008440
Other languages
French (fr)
Other versions
WO2000058519A2 (en
Inventor
David Altshuler
Michele Cargill
George Q Daley
Jams S Ireland
Eric S Lander
Rober Tj Lipshutz
Nila Patil
Pamela Sklar
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.)
Affymetrix Inc
Whitehead Institute for Biomedical Research
Original Assignee
Affymetrix 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 Affymetrix Inc, Whitehead Institute for Biomedical Research filed Critical Affymetrix Inc
Priority to AU40500/00A priority Critical patent/AU4050000A/en
Publication of WO2000058519A2 publication Critical patent/WO2000058519A2/en
Publication of WO2000058519A3 publication Critical patent/WO2000058519A3/en
Anticipated expiration legal-status Critical
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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (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 the coding region of 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.
PCT/US2000/008440 1999-03-31 2000-03-30 Charaterization of single nucleotide polymorphisms in coding regions of human genes Ceased WO2000058519A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU40500/00A AU4050000A (en) 1999-03-31 2000-03-30 Charaterization of single nucleotide polymorphisms in coding regions of human genes

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US12724899P 1999-03-31 1999-03-31
US60/127,248 1999-03-31

Publications (2)

Publication Number Publication Date
WO2000058519A2 WO2000058519A2 (en) 2000-10-05
WO2000058519A3 true WO2000058519A3 (en) 2001-08-23

Family

ID=22429104

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/008440 Ceased WO2000058519A2 (en) 1999-03-31 2000-03-30 Charaterization of single nucleotide polymorphisms in coding regions of human genes

Country Status (2)

Country Link
AU (1) AU4050000A (en)
WO (1) WO2000058519A2 (en)

Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6949633B1 (en) 1995-05-22 2005-09-27 Sequenom, Inc. Primers useful for sizing nucleic acids
US6958214B2 (en) 2000-07-10 2005-10-25 Sequenom, Inc. Polymorphic kinase anchor proteins and nucleic acids encoding the same
US7432342B2 (en) 2002-05-03 2008-10-07 Sequenom, Inc. Kinase anchor protein muteins, peptides thereof and related documents
CN108048575A (en) * 2017-11-03 2018-05-18 湖南优品司生物科技有限公司 A kind of kit and method for antenatal noninvasive paternity test

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1294934A2 (en) 2000-03-08 2003-03-26 Complexe Hospitalier de la Sagamie Very low density lipoprotein receptor polymorphisms and uses therefor
WO2002012499A2 (en) * 2000-08-04 2002-02-14 Genaissance Pharmaceuticals, Inc. Haplotypes of the ntf3 gene
AU2001294586A1 (en) * 2000-09-15 2002-03-26 Genaissance Pharmaceuticals, Inc. Haplotypes of the htr5a gene
US20030087244A1 (en) * 2001-10-09 2003-05-08 Vitivity, Inc Diagnosis and treatment of vascular disease
US7332597B2 (en) 2004-06-28 2008-02-19 University Of Kentucky Research Foundation Primers and probe to identify mycobacterium tuberculosis complex
CA2915679C (en) * 2006-10-20 2017-12-12 Celera Corporation Genetic polymorphisms associated with venous thrombosis, methods of detection and uses thereof

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1996020279A1 (en) * 1994-12-23 1996-07-04 Ribozyme Pharmaceuticals, Inc. Method and reagent for prevention, inhibition of progression and regression of vascular diseases
WO1998020165A2 (en) * 1996-11-06 1998-05-14 Whitehead Institute For Biomedical Research Biallelic markers

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1996020279A1 (en) * 1994-12-23 1996-07-04 Ribozyme Pharmaceuticals, Inc. Method and reagent for prevention, inhibition of progression and regression of vascular diseases
US5705388A (en) * 1994-12-23 1998-01-06 Ribozyme Pharmaceuticals, Inc. CETP Ribozymes
WO1998020165A2 (en) * 1996-11-06 1998-05-14 Whitehead Institute For Biomedical Research Biallelic markers

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
CHEE M ET AL: "ACCESSING GENETIC INFORMATION WITH HIGH-DENSITY DNA ARRAYS", SCIENCE,US,AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE,, vol. 274, 25 October 1996 (1996-10-25), pages 610 - 614, XP002022508, ISSN: 0036-8075 *
DATABASE GENEBANK 18 April 1992 (1992-04-18), ICHINOSE H. ET AL.: "Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase", XP002152538 *
DATABASE MEDLINE American medical association; 3 March 1992 (1992-03-03), XP002152537 *
OEFNER P J ET AL: "COMPARATIVE DNA SEQUENCING BY DENATURING HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY", AMERICAN JOURNAL OF HUMAN GENETICS,UNIVERSITY OF CHICAGO PRESS, CHICAGO,,US, vol. 57, October 1995 (1995-10-01), pages A266, XP002918646, ISSN: 0002-9297 *
SUMI-ICHINOSE C. ET AL.: "Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase, the enzyme for catecholamine and serotonine biosynthesis", BIOCHEMISTRY, vol. 31, no. 8, 1992, US, pages 2229 - 2238, XP000943412, DOI: doi:10.1021/bi00123a004 *
SYVANEN A -CH ET AL: "IDENTIFICATION OF INDIVIDUALS BY ANALYSIS OF BIALLELIC DNA MARKERS,USING PCR AND SOLID-PHASE MINISEQUENCING", AMERICAN JOURNAL OF HUMAN GENETICS,US,UNIVERSITY OF CHICAGO PRESS, CHICAGO,, vol. 52, no. 1, 1993, pages 46 - 59, XP002050638, ISSN: 0002-9297 *
UNDERHILL P.A. ET AL.: "Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography", GENOME RESEARCH, vol. 7, - 1997, US, pages 996 - 1005, XP000942730 *
WANG D G ET AL: "Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome", SCIENCE,US,AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE,, vol. 280, 1998, pages 1077 - 1082, XP002089398, ISSN: 0036-8075 *

Cited By (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6949633B1 (en) 1995-05-22 2005-09-27 Sequenom, Inc. Primers useful for sizing nucleic acids
US6958214B2 (en) 2000-07-10 2005-10-25 Sequenom, Inc. Polymorphic kinase anchor proteins and nucleic acids encoding the same
US7432342B2 (en) 2002-05-03 2008-10-07 Sequenom, Inc. Kinase anchor protein muteins, peptides thereof and related documents
CN108048575A (en) * 2017-11-03 2018-05-18 湖南优品司生物科技有限公司 A kind of kit and method for antenatal noninvasive paternity test
CN108048575B (en) * 2017-11-03 2021-06-15 中南大学湘雅医院 A kind of kit and method for prenatal non-invasive paternity test

Also Published As

Publication number Publication date
AU4050000A (en) 2000-10-16
WO2000058519A2 (en) 2000-10-05

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