WO1996041002A3 - Methods for the identification of genetic modification of dna involving dna sequencing and positional cloning - Google Patents

Methods for the identification of genetic modification of dna involving dna sequencing and positional cloning Download PDF

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Publication number
WO1996041002A3
WO1996041002A3 PCT/US1996/008806 US9608806W WO9641002A3 WO 1996041002 A3 WO1996041002 A3 WO 1996041002A3 US 9608806 W US9608806 W US 9608806W WO 9641002 A3 WO9641002 A3 WO 9641002A3
Authority
WO
WIPO (PCT)
Prior art keywords
dna
methods
identification
positional cloning
genetic modification
Prior art date
Application number
PCT/US1996/008806
Other languages
French (fr)
Other versions
WO1996041002A2 (en
Inventor
Anthony P Shuber
Original Assignee
Genzyme Corp
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 claimed from US08/488,013 external-priority patent/US5707806A/en
Priority claimed from US08/487,986 external-priority patent/US5571676A/en
Application filed by Genzyme Corp filed Critical Genzyme Corp
Priority to EP96917145A priority Critical patent/EP0832283A2/en
Priority to AU59813/96A priority patent/AU705257B2/en
Priority to JP9501295A priority patent/JPH11506937A/en
Publication of WO1996041002A2 publication Critical patent/WO1996041002A2/en
Publication of WO1996041002A3 publication Critical patent/WO1996041002A3/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
    • C12Q1/6813—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
    • C12Q1/6869—Methods for sequencing

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

The present invention provides methods for determining the precise location and sequence of genetic alterations and mutations present in a gene of interest. The present invention further provides methods for positional cloning and sequence determination of a gene of interest.
PCT/US1996/008806 1995-06-07 1996-06-06 Methods for the identification of genetic modification of dna involving dna sequencing and positional cloning WO1996041002A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
EP96917145A EP0832283A2 (en) 1995-06-07 1996-06-06 Methods for the identification of genetic modification of dna involving dna sequencing and positional cloning
AU59813/96A AU705257B2 (en) 1995-06-07 1996-06-06 Methods for the identification of genetic modification of DNA involving DNA sequencing and positional cloning
JP9501295A JPH11506937A (en) 1995-06-07 1996-06-06 Methods for identifying genetic modifications of DNA, including DNA sequencing and positional cloning

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US48801295A 1995-06-07 1995-06-07
US48798795A 1995-06-07 1995-06-07
US08/487,987 1995-06-07
US08/487,986 1995-06-07
US08/488,012 1995-06-07
US08/488,013 US5707806A (en) 1995-06-07 1995-06-07 Direct sequence identification of mutations by cleavage- and ligation-associated mutation-specific sequencing
US08/487,986 US5571676A (en) 1995-06-07 1995-06-07 Method for mismatch-directed in vitro DNA sequencing
US08/488,013 1995-06-07

Publications (2)

Publication Number Publication Date
WO1996041002A2 WO1996041002A2 (en) 1996-12-19
WO1996041002A3 true WO1996041002A3 (en) 1997-02-20

Family

ID=27504308

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US1996/008806 WO1996041002A2 (en) 1995-06-07 1996-06-06 Methods for the identification of genetic modification of dna involving dna sequencing and positional cloning

Country Status (5)

Country Link
EP (1) EP0832283A2 (en)
JP (1) JPH11506937A (en)
AU (1) AU705257B2 (en)
CA (1) CA2219933A1 (en)
WO (1) WO1996041002A2 (en)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9724480D0 (en) * 1997-11-19 1998-01-14 Hexagen Technology Limited Screening process
US6297010B1 (en) * 1998-01-30 2001-10-02 Genzyme Corporation Method for detecting and identifying mutations
US6573053B1 (en) 1999-02-05 2003-06-03 Amersham Biosciences Uk Limited Analysis method
DE19911130A1 (en) 1999-03-12 2000-09-21 Hager Joerg Methods for identifying chromosomal regions and genes
US7166432B2 (en) 1999-03-12 2007-01-23 Integragen Compositions and methods for genetic analysis
AU6387000A (en) * 1999-07-29 2001-02-19 Genzyme Corporation Serial analysis of genetic alterations
US6524794B1 (en) * 1999-10-29 2003-02-25 Decode Genetics Ehf. Identical-by-descent fragment enrichment
US6235483B1 (en) 2000-01-31 2001-05-22 Agilent Technologies, Inc. Methods and kits for indirect labeling of nucleic acids
DE10030452A1 (en) * 2000-06-21 2002-01-24 Max Planck Gesellschaft In vitro detection of DNA damage, useful e.g. for determining genotoxicity of chemicals, comprises measuring specific interaction between DNA and repair proteins
CA2422749A1 (en) * 2000-09-21 2002-03-28 Merck & Co., Inc. Method for generating recombinant polynucleotides
AU2003210259A1 (en) * 2002-02-21 2003-09-09 Nanogen Recognomics Gmbh Method for detecting single nucleotide polymorphisms
ES2292270B1 (en) 2004-04-14 2009-02-16 Oryzon Genomics, S.A. PROCEDURE FOR SELECTLY DETECTING NUCLEIC ACIDS WITH ATIPIC STRUCTURES CONVERTIBLE IN MUESCAS.
WO2020264117A1 (en) * 2019-06-26 2020-12-30 Integrated Dna Technologies, Inc. Compositions and methods for improved detection of genomic editing events

Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993020233A1 (en) * 1992-03-27 1993-10-14 University Of Maryland At Baltimore Detection of gene mutations with mismatch repair enzymes
WO1993022457A1 (en) * 1992-04-24 1993-11-11 Massachusetts Institute Of Technology Screening for genetic variation
WO1993022462A1 (en) * 1992-05-06 1993-11-11 The Board Of Trustees Of The Leland Stanford Junior University Genomic mismatch scanning
WO1995007361A1 (en) * 1993-09-10 1995-03-16 Institut Pasteur Method for the detection of molecules containing nucleotidic mismatches and location thereof, and application to detection of substitutions or deletions of bases in nucleotidic sequences
WO1995012688A1 (en) * 1993-01-11 1995-05-11 United States Biochemical Corporation Methods of analysis and manipulation of dna utilizing mismatch repair systems
US5571676A (en) * 1995-06-07 1996-11-05 Ig Laboratories, Inc. Method for mismatch-directed in vitro DNA sequencing
WO1996035809A1 (en) * 1995-05-11 1996-11-14 Avitech Diagnostics Inc Detection of mismatches by resolvase cleavage on a solid support

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5707806A (en) * 1995-06-07 1998-01-13 Genzyme Corporation Direct sequence identification of mutations by cleavage- and ligation-associated mutation-specific sequencing

Patent Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993020233A1 (en) * 1992-03-27 1993-10-14 University Of Maryland At Baltimore Detection of gene mutations with mismatch repair enzymes
WO1993022457A1 (en) * 1992-04-24 1993-11-11 Massachusetts Institute Of Technology Screening for genetic variation
WO1993022462A1 (en) * 1992-05-06 1993-11-11 The Board Of Trustees Of The Leland Stanford Junior University Genomic mismatch scanning
WO1995012688A1 (en) * 1993-01-11 1995-05-11 United States Biochemical Corporation Methods of analysis and manipulation of dna utilizing mismatch repair systems
WO1995007361A1 (en) * 1993-09-10 1995-03-16 Institut Pasteur Method for the detection of molecules containing nucleotidic mismatches and location thereof, and application to detection of substitutions or deletions of bases in nucleotidic sequences
WO1996035809A1 (en) * 1995-05-11 1996-11-14 Avitech Diagnostics Inc Detection of mismatches by resolvase cleavage on a solid support
US5571676A (en) * 1995-06-07 1996-11-05 Ig Laboratories, Inc. Method for mismatch-directed in vitro DNA sequencing

Non-Patent Citations (7)

* Cited by examiner, † Cited by third party
Title
DATABASE WPI Section Ch Week 9650, Derwent World Patents Index; Class B04, AN 96-505396, XP002021165 *
DEAN M: "RESOLVING DNA MUTATIONS", NATURE GENETICS, vol. 9, 1 February 1995 (1995-02-01), pages 103/104, XP000600254 *
L.A. ELLIS ET AL.: "MutS binding protects heteroduplex DNA from exonuclease digestion in vitro: a simple method for detecting mutations", NUCLEIC ACIDS RESEARCH, vol. 22, no. 13, 11 July 1994 (1994-07-11), IRL PRESS LIMITED,OXFORD,ENGLAND, pages 2710 - 2711, XP002021164 *
M. GROMPE: "The rapid detection of unknown mutations in nucleic acids", NATURE GENETICS, vol. 5, no. 2, October 1993 (1993-10-01), NATURE PUBLISHING CO., NEW YORK, US, pages 111 - 117, XP000615290 *
MASHAL R D ET AL: "DETECTION OF MUTATIONS BY CLEAVAGE OF DNA HETERODUPLEXES WITH BACTERIOPHAGE RESOLVASES", NATURE GENETICS, vol. 9, 1 February 1995 (1995-02-01), pages 177 - 183, XP000600255 *
PEASE A C ET AL: "LIGHT-GENERATED OLIGONUCLEOTIDE ARRAYS FOR RAPID DNA SEQUENCE ANALYSIS", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, vol. 91, no. 11, 24 May 1994 (1994-05-24), pages 5022 - 5026, XP000569532 *
R. YOUIL ET AL.: "Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII", PROC. NATL.ACAD SCI., vol. 92, January 1995 (1995-01-01), NATL. ACAD SCI.,WASHINGTON,DC,US;, pages 87 - 91, XP002021163 *

Also Published As

Publication number Publication date
JPH11506937A (en) 1999-06-22
EP0832283A2 (en) 1998-04-01
WO1996041002A2 (en) 1996-12-19
AU705257B2 (en) 1999-05-20
AU5981396A (en) 1996-12-30
CA2219933A1 (en) 1996-12-19

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