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1. WO2013102877 - OLIGONUCLEOTIDES AND METHODS FOR DETERMINING A PREDISPOSITION TO SOFT TISSUE INJURIES

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Publication Number WO/2013/102877
Publication Date 11.07.2013
International Application No. PCT/IB2013/050083
International Filing Date 04.01.2013
Chapter 2 Demand Filed 04.11.2013
IPC
C12Q 1/68 2006.1
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
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 2600/112
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12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
112Disease subtyping, staging or classification
C12Q 2600/118
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12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
118Prognosis of disease development
C12Q 2600/124
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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2600Oligonucleotides characterized by their use
124Animal traits, i.e. production traits, including athletic performance or the like
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
C12Q 2600/172
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
172Haplotypes
Applicants
  • SOUTH AFRICAN MEDICAL RESEARCH COUNCIL [ZA]/[ZA]
  • UNIVERSITY OF CAPE TOWN [ZA]/[ZA]
Inventors
  • COLLINS, Malcolm Robert
  • SEPTEMBER, Alison Victoria
Agents
  • VAN WYK, Wessel Johannes
Priority Data
2012/0004704.01.2012ZA
Publication Language English (en)
Filing Language English (EN)
Designated States
Title
(EN) OLIGONUCLEOTIDES AND METHODS FOR DETERMINING A PREDISPOSITION TO SOFT TISSUE INJURIES
(FR) OLIGONUCLÉOTIDES ET PROCÉDÉS POUR LA DÉTERMINATION D'UNE PRÉDISPOSITION VIS-À-VIS DE LÉSIONS D'UN TISSU MOU
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Abstract
(EN) A method of determining in a subject a predisposition to, or increased risk for, developing a tendon, ligament, or other soft tissue injury or pathology, the method comprising the step of screening the subject for the presence of at least one polymorphism in at least one gene selected from the group comprising: a) the collagen V gene COL5A1; wherein the COL5A1 gene is rs71746744, rs16399 and/or rs1134170 within the 3'-untranslated region (UTR) of the alpha 1 chain of the COL5A1 gene; b) the MIR608 gene which encodes a miRNA which binds to a recognition sequence within the 3'-UTR of the collagen V gene COL5A1; and c) the CASP8 gene; wherein the presence of the polymorphism is indicative of a predisposition to, or increased risk for, developing a musculoskeletal soft tissue injury in the subject.
(FR) L'invention concerne un procédé de détermination chez un sujet d'une prédisposition vis-à-vis de ou un risque accru de développer une lésion ou une pathologie de tendon, de ligament ou d'un autre tissu mou, le procédé comprenant l'étape de criblage du sujet pour la présence d'au moins un polymorphisme dans au moins un gène choisi dans le groupe comprenant : a) le gène du collagène V COL5A1; où le gène COL5A1 est rs71746744, rs16399 et/ou rs1134170 à l'intérieur de la région 3' non traduite (UTR) de la chaîne alpha 1 du gène COL5A1; b) le gène MIR608 qui code pour un miARN qui se lie à une séquence de reconnaissance à l'intérieur du 3' UTR du gène de collagène V COL5A1 ; et c) le gène CASP8; où la présence du polymorphisme est indicatrice d'une prédisposition vis-à-vis de ou d'un risque accru de développer une lésion de tissu mou musculosquelettique chez le sujet.
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