WO2005010145A3 - Method and compositions for detection and enumeration of genetic variations - Google Patents

Method and compositions for detection and enumeration of genetic variations Download PDF

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Publication number
WO2005010145A3
WO2005010145A3 PCT/US2004/015587 US2004015587W WO2005010145A3 WO 2005010145 A3 WO2005010145 A3 WO 2005010145A3 US 2004015587 W US2004015587 W US 2004015587W WO 2005010145 A3 WO2005010145 A3 WO 2005010145A3
Authority
WO
WIPO (PCT)
Prior art keywords
dna
dna molecules
molecules
transcripts
variation
Prior art date
Application number
PCT/US2004/015587
Other languages
French (fr)
Other versions
WO2005010145A2 (en
Inventor
Devin Dressman
Hai Yan
Kenneth W Kinzler
Bert Vogelstein
Original Assignee
Univ Johns Hopkins
Devin Dressman
Hai Yan
Kenneth W Kinzler
Bert Vogelstein
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
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=34107717&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=WO2005010145(A3) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Univ Johns Hopkins, Devin Dressman, Hai Yan, Kenneth W Kinzler, Bert Vogelstein filed Critical Univ Johns Hopkins
Priority to CA2531105A priority Critical patent/CA2531105C/en
Priority to US10/562,840 priority patent/US8048627B2/en
Priority to JP2006518618A priority patent/JP5183063B2/en
Priority to EP15159069.2A priority patent/EP2918595B1/en
Priority to EP04752581.1A priority patent/EP1641809B2/en
Publication of WO2005010145A2 publication Critical patent/WO2005010145A2/en
Publication of WO2005010145A3 publication Critical patent/WO2005010145A3/en
Priority to US12/361,690 priority patent/US20090286687A1/en
Priority to US13/311,120 priority patent/US9328343B2/en
Priority to US15/096,355 priority patent/US10604797B2/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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/04—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034—Isolating an individual clone by screening libraries
    • C12N15/1075—Isolating an individual clone by screening libraries by coupling phenotype to genotype, not provided for in other groups of this subclass
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/686—Polymerase chain reaction [PCR]

Abstract

Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
PCT/US2004/015587 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations WO2005010145A2 (en)

Priority Applications (8)

Application Number Priority Date Filing Date Title
CA2531105A CA2531105C (en) 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations
US10/562,840 US8048627B2 (en) 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations
JP2006518618A JP5183063B2 (en) 2003-07-05 2004-06-09 Methods and compositions for detection and enumeration of genetic variations
EP15159069.2A EP2918595B1 (en) 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations
EP04752581.1A EP1641809B2 (en) 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations
US12/361,690 US20090286687A1 (en) 2003-07-05 2009-01-29 Method and Compositions for Detection and Enumeration of Genetic Variations
US13/311,120 US9328343B2 (en) 2003-07-05 2011-12-05 Method and compositions for detection and enumeration of genetic variations
US15/096,355 US10604797B2 (en) 2003-07-05 2016-04-12 Method and compositions for detection and enumeration of genetic variations

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US48530103P 2003-07-05 2003-07-05
US60/485,301 2003-07-05
US52585903P 2003-12-01 2003-12-01
US60/525,859 2003-12-01

Related Child Applications (2)

Application Number Title Priority Date Filing Date
US10/562,840 A-371-Of-International US8048627B2 (en) 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations
US12/361,690 Continuation US20090286687A1 (en) 2003-07-05 2009-01-29 Method and Compositions for Detection and Enumeration of Genetic Variations

Publications (2)

Publication Number Publication Date
WO2005010145A2 WO2005010145A2 (en) 2005-02-03
WO2005010145A3 true WO2005010145A3 (en) 2005-08-11

Family

ID=34107717

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2004/015587 WO2005010145A2 (en) 2003-07-05 2004-06-09 Method and compositions for detection and enumeration of genetic variations

Country Status (6)

Country Link
US (4) US8048627B2 (en)
EP (3) EP1641809B2 (en)
JP (1) JP5183063B2 (en)
CA (1) CA2531105C (en)
HK (1) HK1179304A1 (en)
WO (1) WO2005010145A2 (en)

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