WO2002029006A3 - Methods for parallel measurement of genetic variations - Google Patents

Methods for parallel measurement of genetic variations Download PDF

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Publication number
WO2002029006A3
WO2002029006A3 PCT/US2001/042432 US0142432W WO0229006A3 WO 2002029006 A3 WO2002029006 A3 WO 2002029006A3 US 0142432 W US0142432 W US 0142432W WO 0229006 A3 WO0229006 A3 WO 0229006A3
Authority
WO
WIPO (PCT)
Prior art keywords
nucleotide
interest
primer
sequence
extension product
Prior art date
Application number
PCT/US2001/042432
Other languages
French (fr)
Other versions
WO2002029006A2 (en
Inventor
Ness Jeffrey Van
David J Galas
Lori K Garrison
Original Assignee
Keck Graduate Inst
Ness Jeffrey Van
David J Galas
Lori K Garrison
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
Priority to AU1183902A priority Critical patent/AU1183902A/en
Application filed by Keck Graduate Inst, Ness Jeffrey Van, David J Galas, Lori K Garrison filed Critical Keck Graduate Inst
Priority to US10/398,006 priority patent/US20040019005A1/en
Publication of WO2002029006A2 publication Critical patent/WO2002029006A2/en
Publication of WO2002029006A3 publication Critical patent/WO2002029006A3/en

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism

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  • 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)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (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)
  • Investigating, Analyzing Materials By Fluorescence Or Luminescence (AREA)

Abstract

The identity of a nucleotide of interest in a target nucleic acid molecule is determined by combining the target with two primers. The first primer is immobilized to a substrate and hybridizes to and extends from a location 3' of the nucleotide of interest in the target, so as to incorporate the complement of the nucleotide of interest in a first extension product. The second primer then hybridizes to and extends based on the first extension product, which is immobilized to the substrate via the first primer, at a location 3' of the complement of the nucleotide of interest, so as to incorporate the nucleotide of interest in a second extension product. The second extension product then dissociates from the first extension product and thus from the substrate and re-hybridizes to another first primer molecule that has not extended. The non-extended first primer then extends from a location 3' of the nucleotide of interest in the second extension product, so as to form, in combination with the second extension product, a double-stranded nucleic acid fragment. The first and second primers are designed to incorporate a portion of the recognition sequence of a restriction endonuclease (RE) that recognizes a partially variable interrupted nucleotide sequence, i.e., a sequence of the form D-N-S where D and S refer to specific nucleotide sequences essential for RE recognition, and N is a sequence consisting of n viable nucleotides also required for RE recognition. The first primer incorporates the sequence D, the second primer incorporates the sequence S, and they are designed, in view of the target, to product a nucleic acid fragment where constant sequences D and S are separated by variable sequence N, where the nucleotide of interest is within region N. Action of the RE on the nucleic acid fragment provides a small nucleic acid fragment that is amendable to characterization, to thereby reveal the identity of the nucleotide of interest.
PCT/US2001/042432 2000-10-02 2001-10-01 Methods for parallel measurement of genetic variations WO2002029006A2 (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
AU1183902A AU1183902A (en) 2000-10-02 2001-09-28 Methods for parallel measurement of genetic variations
US10/398,006 US20040019005A1 (en) 2001-10-01 2001-10-01 Methods for parallel measurement of genetic variations

Applications Claiming Priority (22)

Application Number Priority Date Filing Date Title
US23740900P 2000-10-02 2000-10-02
US60/237,409 2000-10-02
US24727500P 2000-11-10 2000-11-10
US24716600P 2000-11-10 2000-11-10
US24717200P 2000-11-10 2000-11-10
US24716700P 2000-11-10 2000-11-10
US24717300P 2000-11-10 2000-11-10
US60/247,172 2000-11-10
US60/247,173 2000-11-10
US60/247,166 2000-11-10
US60/247,167 2000-11-10
US60/247,275 2000-11-10
US26397101P 2001-01-24 2001-01-24
US60/263,971 2001-01-24
US26924401P 2001-02-15 2001-02-15
US60/269,244 2001-02-15
US30035001P 2001-06-21 2001-06-21
US30031901P 2001-06-21 2001-06-21
US60/300,319 2001-06-21
US60/300,350 2001-06-21
US30139401P 2001-06-27 2001-06-27
US60/301,394 2001-06-27

Publications (2)

Publication Number Publication Date
WO2002029006A2 WO2002029006A2 (en) 2002-04-11
WO2002029006A3 true WO2002029006A3 (en) 2002-08-29

Family

ID=27582742

Family Applications (4)

Application Number Title Priority Date Filing Date
PCT/US2001/042432 WO2002029006A2 (en) 2000-10-02 2001-10-01 Methods for parallel measurement of genetic variations
PCT/US2001/030828 WO2002028501A1 (en) 2000-10-02 2001-10-01 Genotyping by liquid chromatographic analysis of short nucleic acid fragments
PCT/US2001/030743 WO2002040126A2 (en) 2000-10-02 2001-10-01 Methods for identifying nucleotides at defined positions in target nucleic acids using fluorescence polarization
PCT/US2001/030742 WO2002046447A2 (en) 2000-10-02 2001-10-01 Methods for identifying nucleotides at defined positions in target nucleic acids

Family Applications After (3)

Application Number Title Priority Date Filing Date
PCT/US2001/030828 WO2002028501A1 (en) 2000-10-02 2001-10-01 Genotyping by liquid chromatographic analysis of short nucleic acid fragments
PCT/US2001/030743 WO2002040126A2 (en) 2000-10-02 2001-10-01 Methods for identifying nucleotides at defined positions in target nucleic acids using fluorescence polarization
PCT/US2001/030742 WO2002046447A2 (en) 2000-10-02 2001-10-01 Methods for identifying nucleotides at defined positions in target nucleic acids

Country Status (2)

Country Link
AU (4) AU3922802A (en)
WO (4) WO2002029006A2 (en)

Families Citing this family (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
MXPA04000432A (en) * 2001-07-15 2004-10-27 Keck Graduate Inst Amplification of nucleic acid fragments using nicking agents.
US7223541B2 (en) 2001-08-29 2007-05-29 Ge Healthcare Bio-Sciences Corp. Terminal-phosphate-labeled nucleotides and methods of use
US7033762B2 (en) 2001-08-29 2006-04-25 Amersham Biosciences Corp Single nucleotide amplification and detection by polymerase
ATE458067T1 (en) 2001-08-29 2010-03-15 Ge Healthcare Bio Sciences LABELED NUCLEOSIDE POLYPHOSPHATES
US7052839B2 (en) 2001-08-29 2006-05-30 Amersham Biosciences Corp Terminal-phosphate-labeled nucleotides and methods of use
US7256019B2 (en) 2001-08-29 2007-08-14 Ge Healthcare Bio-Sciences Corp. Terminal phosphate blocked nucleoside polyphosphates
US7560254B2 (en) 2001-08-29 2009-07-14 Ge Healthcare Bio-Sciences Corp. Allele specific primer extension
GB0228614D0 (en) * 2002-12-07 2003-01-15 Fu Guoliang Oligonucleotide guided analysis of gene expression
CA2524255C (en) 2003-03-21 2014-02-11 Academisch Ziekenhuis Leiden Modulation of exon recognition in pre-mrna by interfering with the secondary rna structure
USRE48468E1 (en) 2007-10-26 2021-03-16 Biomarin Technologies B.V. Means and methods for counteracting muscle disorders
EP2203173B1 (en) 2007-10-26 2015-12-23 Academisch Ziekenhuis Leiden Means and methods for counteracting muscle disorders
EP2119783A1 (en) 2008-05-14 2009-11-18 Prosensa Technologies B.V. Method for efficient exon (44) skipping in Duchenne Muscular Dystrophy and associated means
US20120046342A1 (en) 2009-04-24 2012-02-23 Prosensa Technologies B.V. Oligonucleotide comprising an inosine for treating dmd
CN104203289B (en) 2012-01-27 2020-11-03 比奥马林技术公司 RNA-regulatory oligonucleotides with improved properties for the treatment of duchenne muscular dystrophy and becker muscular dystrophy

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6040166A (en) * 1985-03-28 2000-03-21 Roche Molecular Systems, Inc. Kits for amplifying and detecting nucleic acid sequences, including a probe
US6103463A (en) * 1992-02-19 2000-08-15 The Public Health Research Institute Of The City Of New York, Inc. Method of sorting a mixture of nucleic acid strands on a binary array
US6110709A (en) * 1994-03-18 2000-08-29 The General Hospital Corporation Cleaved amplified modified polymorphic sequence detection methods

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0646171A4 (en) * 1992-05-22 1998-01-07 Us Health Improved expression of human multidrug resistance genes and improved selection of cells transduced with such genes.
US5284758A (en) * 1992-08-14 1994-02-08 Merck & Co., Inc. Process for forming cholesterol lowering compound using pseudodiplodia sp.
JPH078289A (en) * 1993-06-29 1995-01-13 Osaka Gas Co Ltd Method for synthesizing peptide and protein using ribosome
US6027898A (en) * 1997-08-18 2000-02-22 Transgenomic, Inc. Chromatographic method for mutation detection using mutation site specifically acting enzymes and chemicals
US6180408B1 (en) * 1998-08-21 2001-01-30 Washington University Fluorescence polarization in nucleic acid analysis

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6040166A (en) * 1985-03-28 2000-03-21 Roche Molecular Systems, Inc. Kits for amplifying and detecting nucleic acid sequences, including a probe
US6103463A (en) * 1992-02-19 2000-08-15 The Public Health Research Institute Of The City Of New York, Inc. Method of sorting a mixture of nucleic acid strands on a binary array
US6110709A (en) * 1994-03-18 2000-08-29 The General Hospital Corporation Cleaved amplified modified polymorphic sequence detection methods

Also Published As

Publication number Publication date
WO2002046447A3 (en) 2003-12-24
AU3922802A (en) 2002-05-27
AU2002239228A8 (en) 2006-11-02
WO2002046447A2 (en) 2002-06-13
AU2001296491A1 (en) 2002-04-15
WO2002040126A2 (en) 2002-05-23
WO2002040126A3 (en) 2006-04-06
WO2002028501A1 (en) 2002-04-11
AU1183902A (en) 2002-04-15
AU4146002A (en) 2002-06-18
WO2002029006A2 (en) 2002-04-11

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