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WO2008005559A3 - A strategy for detecting low abundance mutations - Google Patents

A strategy for detecting low abundance mutations Download PDF

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Publication number
WO2008005559A3
WO2008005559A3 PCT/US2007/015631 US2007015631W WO2008005559A3 WO 2008005559 A3 WO2008005559 A3 WO 2008005559A3 US 2007015631 W US2007015631 W US 2007015631W WO 2008005559 A3 WO2008005559 A3 WO 2008005559A3
Authority
WO
WIPO (PCT)
Prior art keywords
mutations
dna
sample
amplicons
strategy
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/US2007/015631
Other languages
French (fr)
Other versions
WO2008005559A2 (en
Inventor
Michael Goggins
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.)
Johns Hopkins University
Original Assignee
Johns Hopkins University
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 Johns Hopkins University filed Critical Johns Hopkins University
Publication of WO2008005559A2 publication Critical patent/WO2008005559A2/en
Anticipated expiration legal-status Critical
Publication of WO2008005559A3 publication Critical patent/WO2008005559A3/en
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

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 relates, e.g., to a method for screening for mutations in a DNA sample, comprising (a) diluting and distributing the sample to obtain a plurality of aliquots which, on the average, contain between about 2-10 genome equivalents of the DNA; (b) PCR amplifying the DNA in a sufficient number of aliquots, with at least one set of PCR primers, so as to generate amplicons such that, if mutations are present at a frequency of about 1-10% in a given gene in the sample, the probability of there being a mutation in that gene in at least one of the amplicons is at least about 95%; and (c) screening the amplicons for the presence of mutations, using a method that can detect unspecified mutations at unspecified sites within an amplicon (e.g., temperature gradient capillary electrophoresis (TGCE) or cycle sequencing of the DNA).
PCT/US2007/015631 2006-07-07 2007-07-09 A strategy for detecting low abundance mutations Ceased WO2008005559A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US81944006P 2006-07-07 2006-07-07
US60/819,440 2006-07-07

Publications (2)

Publication Number Publication Date
WO2008005559A2 WO2008005559A2 (en) 2008-01-10
WO2008005559A3 true WO2008005559A3 (en) 2009-02-19

Family

ID=38895250

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2007/015631 Ceased WO2008005559A2 (en) 2006-07-07 2007-07-09 A strategy for detecting low abundance mutations

Country Status (1)

Country Link
WO (1) WO2008005559A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN109517899B (en) * 2018-12-05 2021-07-20 山东普瑞斯分子诊断技术有限责任公司 Kit for detecting EGFR gene mutation and detection method
CN113628683B (en) * 2021-08-24 2024-04-09 慧算医疗科技（上海）有限公司 High-throughput sequencing mutation detection method, device and apparatus and readable storage medium

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
DANI ET AL, GENETICS AND MOLECULAR RESEARCH, vol. 3, no. 3, September 2004 (2004-09-01), pages 395 - 409 *
MARGRAF ET AL, JOURNAL OF CLINICAL MICROBIOLOGY, vol. 42, no. 10, October 2004 (2004-10-01), pages 4545 - 4551 *

Also Published As

Publication number Publication date
WO2008005559A2 (en) 2008-01-10

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