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1. WO2022026440 - RAPID CLINICAL TEST FOR GENETIC DIAGNOSIS INVOLVING KNOWN VARIANTS

Publication Number WO/2022/026440
Publication Date 03.02.2022
International Application No. PCT/US2021/043271
International Filing Date 27.07.2021
IPC
C07H 21/00 2006.1
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
HSUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
C07H 21/04 2006.1
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
HSUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
04with deoxyribosyl as saccharide radical
C12N 15/113 2010.1
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
113Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides
C12Q 1/68 2018.1
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
CPC
C07H 21/00
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
HSUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
C07H 21/04
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
HSUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
04with deoxyribosyl as saccharide radical
C12N 15/113
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
113Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
C12Q 1/68
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
Applicants
  • YALE UNIVERSITY [US]/[US]
Inventors
  • SCHARFE, Curt
  • GANDOTRA, Neeru
  • MURRAY, Michael
Agents
  • FONVILLE, Natalie
  • ARTIS, Ryan
  • ALLEN, Scott
  • ALLEN, Justin
  • CHEN, Xu, Ming Ming
Priority Data
63/057,18127.07.2020US
Publication Language English (en)
Filing Language English (EN)
Designated States
Title
(EN) RAPID CLINICAL TEST FOR GENETIC DIAGNOSIS INVOLVING KNOWN VARIANTS
(FR) TEST CLINIQUE RAPIDE POUR DIAGNOSTIC GÉNÉTIQUE IMPLIQUANT DES VARIANTS CONNUS
Abstract
(EN) The present invention relates to a method of rapidly detecting genetic variation in individuals by PCR amplification of the locus of interest using allele-specific-oligonucleotides (ASOs), and visualizing the results. In particular, the present invention relates to the detection of genetic polymorphisms in the transthyretin (TTR) gene.
(FR) La présente invention concerne un procédé de détection rapide de variation génétique chez des individus par amplification par PCR du locus d'intérêt à l'aide d'oligonucléotides spécifiques aux allèles (ASO), et visualisation des résultats. Plus particulièrement, la présente invention concerne la détection de polymorphismes génétiques dans le gène de la transthyrétine (TTR).
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