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1. WO2013006791 - SEMI-DIGITAL LIGATION ASSAY

Publication Number WO/2013/006791
Publication Date 10.01.2013
International Application No. PCT/US2012/045757
International Filing Date 06.07.2012
IPC
C12Q 1/68 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
C12N 15/11 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
11DNA or RNA fragments; Modified forms thereof
CPC
C12Q 1/6827
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6813Hybridisation assays
6827for detection of mutation or polymorphism
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 1/6886
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
6886for cancer
Applicants
  • THE JOHNS HOPKINS UNIVERSITY [US]/[US] (AllExceptUS)
  • VOGELSTEIN, Bert [US]/[US] (UsOnly)
  • KINZLER, Kenneth W. [US]/[US] (UsOnly)
Inventors
  • VOGELSTEIN, Bert
  • KINZLER, Kenneth W.
Agents
  • KAGAN, Sarah A.
Priority Data
61/504,94706.07.2011US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) SEMI-DIGITAL LIGATION ASSAY
(FR) ESSAI DE LIGATURE SEMI-NUMÉRIQUE
Abstract
(EN)
Assays for detecting mutant sequences at particular locations, especially against a background of non-mutant sequences, employ thermocycling ligase reactions. Differentially labeled or sized probes can be used to distinguish wild-type and mutant sequences. Physico-chemical properties of the probes can be critical to successful detection. Mutation detection can be used for diagnosis, monitoring, or prognosticating diseases such as cancers.
(FR)
La présente invention concerne des essais permettant de détecter des séquences mutantes à des emplacements particuliers, en particulier par rapport à des séquences non mutantes d'arrière-plan, les essais faisant appel à des réactions de thermocyclage en présence de ligase. Des sondes de différentes tailles et à marquage différent peuvent être utilisées pour faire la distinction entre les séquences de type sauvage et les séquences mutantes. Les propriétés physico-chimiques des sondes sont cruciales pour la réussite de la détection. La détection des mutations peut servir à diagnostiquer, suivre ou pronostiquer des maladies, tels que des cancers.
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