WO2004011668A3 - Methods and apparatus for screening and detecting multiple genetic mutations - Google Patents

Methods and apparatus for screening and detecting multiple genetic mutations Download PDF

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Publication number
WO2004011668A3
WO2004011668A3 PCT/US2003/023420 US0323420W WO2004011668A3 WO 2004011668 A3 WO2004011668 A3 WO 2004011668A3 US 0323420 W US0323420 W US 0323420W WO 2004011668 A3 WO2004011668 A3 WO 2004011668A3
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WO
WIPO (PCT)
Prior art keywords
screening
methods
genetic mutations
detecting multiple
identification
Prior art date
Application number
PCT/US2003/023420
Other languages
French (fr)
Other versions
WO2004011668A2 (en
Inventor
Ray R Radtkey
Lance C Held
Bruce Wallace
Karen Menge
David Canter
Original Assignee
Nanogen Inc
Ray R Radtkey
Lance C Held
Bruce Wallace
Karen Menge
David Canter
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 Nanogen Inc, Ray R Radtkey, Lance C Held, Bruce Wallace, Karen Menge, David Canter filed Critical Nanogen Inc
Priority to EP03771899A priority Critical patent/EP1573040A3/en
Priority to CA002494538A priority patent/CA2494538A1/en
Priority to AU2003256835A priority patent/AU2003256835A1/en
Publication of WO2004011668A2 publication Critical patent/WO2004011668A2/en
Publication of WO2004011668A3 publication Critical patent/WO2004011668A3/en

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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
    • 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
    • C12Q1/6834—Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • C12Q1/6837—Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10T—TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
    • Y10T436/00—Chemistry: analytical and immunological testing
    • Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333—Saccharide [e.g., DNA, etc.]

Landscapes

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

Abstract

An assay system and methods are described where patient samples containing genomic DNA are analyzed for the presence of known genetic polymorphisms using a universal reporter strategy. In a preferred embodiment, the amplified DNA is localized at test sites in an array of sites on a microchip followed by a series of hybridization reactions that screen for the presence of a single mutation from among a number of mutations, and allow the identification of specific mutations. In addition to universal reporters, the assay may use blockers and discriminators for screening and identification of known polymorphisms.
PCT/US2003/023420 2002-07-26 2003-07-25 Methods and apparatus for screening and detecting multiple genetic mutations WO2004011668A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
EP03771899A EP1573040A3 (en) 2002-07-26 2003-07-25 Methods and apparatus for screening and detecting multiple genetic mutations
CA002494538A CA2494538A1 (en) 2002-07-26 2003-07-25 Methods and apparatus for screening and detecting multiple genetic mutations
AU2003256835A AU2003256835A1 (en) 2002-07-26 2003-07-25 Methods and apparatus for screening and detecting multiple genetic mutations

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US39899202P 2002-07-26 2002-07-26
US60/398,992 2002-07-26
US44398903P 2003-01-30 2003-01-30
US60/443,989 2003-01-30
US10/627,950 2003-07-24
US10/627,950 US7601493B2 (en) 2002-07-26 2003-07-24 Methods and apparatus for screening and detecting multiple genetic mutations

Publications (2)

Publication Number Publication Date
WO2004011668A2 WO2004011668A2 (en) 2004-02-05
WO2004011668A3 true WO2004011668A3 (en) 2005-08-11

Family

ID=31192095

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2003/023420 WO2004011668A2 (en) 2002-07-26 2003-07-25 Methods and apparatus for screening and detecting multiple genetic mutations

Country Status (5)

Country Link
US (2) US7601493B2 (en)
EP (1) EP1573040A3 (en)
AU (1) AU2003256835A1 (en)
CA (1) CA2494538A1 (en)
WO (1) WO2004011668A2 (en)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7601493B2 (en) * 2002-07-26 2009-10-13 Nanogen, Inc. Methods and apparatus for screening and detecting multiple genetic mutations
WO2004104172A2 (en) * 2003-05-15 2004-12-02 Bioarray Solutions, Ltd. Hybridization-mediated analysis of polymorphisms
AU2005249154B2 (en) * 2004-06-01 2011-02-10 Luminex Molecular Diagnostics, Inc. Method of detecting cystic fibrosis associated mutations
WO2007127564A2 (en) * 2006-04-26 2007-11-08 Siemens Medical Solutions Diagnostics Gmbh Solid phase based nucleic acid assays combining high affinity capturing and detection by specific hybridization
WO2018122852A1 (en) 2016-12-29 2018-07-05 Schnell Amit Cartridge for use in in-vitro diagnostics and method of use thereof
WO2022216804A2 (en) * 2021-04-07 2022-10-13 University Of Massachusetts Specific oligonucleotide-programmed readthrough of nonsense codons

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Also Published As

Publication number Publication date
US7601493B2 (en) 2009-10-13
US8772467B2 (en) 2014-07-08
EP1573040A2 (en) 2005-09-14
US20100167960A1 (en) 2010-07-01
US20040146880A1 (en) 2004-07-29
EP1573040A3 (en) 2005-09-28
AU2003256835A1 (en) 2004-02-16
WO2004011668A2 (en) 2004-02-05
CA2494538A1 (en) 2004-02-05

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