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CL2012002347A1 - Metodo in vitro para el diagnostico de la demencia con cuerpos de lewy (lbd), que comprende determinar en una muestra biológica de un individuo el genotipo de las siguientes alteraciones en el gen de la butirilcolinesterasa o de polimorfismos en desequilibrio de union de los mismos; kit para llevar a cabo dicho método; uso del kit para el diagnóstico de lbd. - Google Patents

Metodo in vitro para el diagnostico de la demencia con cuerpos de lewy (lbd), que comprende determinar en una muestra biológica de un individuo el genotipo de las siguientes alteraciones en el gen de la butirilcolinesterasa o de polimorfismos en desequilibrio de union de los mismos; kit para llevar a cabo dicho método; uso del kit para el diagnóstico de lbd.

Info

Publication number
CL2012002347A1
CL2012002347A1 CL2012002347A CL2012002347A CL2012002347A1 CL 2012002347 A1 CL2012002347 A1 CL 2012002347A1 CL 2012002347 A CL2012002347 A CL 2012002347A CL 2012002347 A CL2012002347 A CL 2012002347A CL 2012002347 A1 CL2012002347 A1 CL 2012002347A1
Authority
CL
Chile
Prior art keywords
lbd
kit
polymorphisms
genotype
dementia
Prior art date
Application number
CL2012002347A
Other languages
English (en)
Inventor
Katrin Beyer
Sabat Montserrat Domingo
Fernandez Aurelio Ariza
Original Assignee
Univ Barcelona Autonoma
Fundacio Inst D Investigacio En Ciencies De La Salut Germans Trias I Pujol
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 Univ Barcelona Autonoma, Fundacio Inst D Investigacio En Ciencies De La Salut Germans Trias I Pujol filed Critical Univ Barcelona Autonoma
Publication of CL2012002347A1 publication Critical patent/CL2012002347A1/es

Links

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/112Disease subtyping, staging or classification
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/16Primer sets for multiplex assays
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Food Science & Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CL2012002347A 2010-02-24 2012-08-23 Metodo in vitro para el diagnostico de la demencia con cuerpos de lewy (lbd), que comprende determinar en una muestra biológica de un individuo el genotipo de las siguientes alteraciones en el gen de la butirilcolinesterasa o de polimorfismos en desequilibrio de union de los mismos; kit para llevar a cabo dicho método; uso del kit para el diagnóstico de lbd. CL2012002347A1 (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
EP10382042A EP2360280A1 (en) 2010-02-24 2010-02-24 Genetic marker for the diagnosis of dementia with Lewy bodies

Publications (1)

Publication Number Publication Date
CL2012002347A1 true CL2012002347A1 (es) 2013-12-13

Family

ID=42077915

Family Applications (1)

Application Number Title Priority Date Filing Date
CL2012002347A CL2012002347A1 (es) 2010-02-24 2012-08-23 Metodo in vitro para el diagnostico de la demencia con cuerpos de lewy (lbd), que comprende determinar en una muestra biológica de un individuo el genotipo de las siguientes alteraciones en el gen de la butirilcolinesterasa o de polimorfismos en desequilibrio de union de los mismos; kit para llevar a cabo dicho método; uso del kit para el diagnóstico de lbd.

Country Status (16)

Country Link
US (1) US20130101997A1 (es)
EP (2) EP2360280A1 (es)
JP (1) JP2013520185A (es)
KR (2) KR20130043107A (es)
CN (1) CN102869786B (es)
AU (1) AU2011220065A1 (es)
BR (1) BR112012021260A2 (es)
CA (1) CA2789054A1 (es)
CL (1) CL2012002347A1 (es)
IL (1) IL221313A0 (es)
MX (1) MX2012009506A (es)
NZ (1) NZ602551A (es)
RU (1) RU2012140458A (es)
SG (1) SG183437A1 (es)
WO (1) WO2011104023A1 (es)
ZA (1) ZA201206975B (es)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2360280A1 (en) * 2010-02-24 2011-08-24 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Genetic marker for the diagnosis of dementia with Lewy bodies
US20140249047A1 (en) * 2011-07-29 2014-09-04 Universitat Autonoma De Barcelona Genetic marker for the diagnosis of dementia with lewy bodies
EP2990800A1 (en) * 2014-08-29 2016-03-02 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Neprilysin as heartfailure (HF) prognostic marker
WO2016164474A1 (en) * 2015-04-06 2016-10-13 The Trustees Of Columbia University In The City Of New York Predictive value of combined genetic enzymatic and lipidomic data in disease risk for lewy body disease
WO2016180725A1 (en) 2015-05-08 2016-11-17 Fundació Institut D'investigació En Ciències De La Salut Germans Trias I Pujol Diagnosis of dementia with lewy bodies
EP3091087A1 (en) 2015-05-08 2016-11-09 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Method for in vitro diagnosis of synucleinopathies using alpha-synuclein gene transcripts
EP3385393A1 (de) * 2017-04-05 2018-10-10 Eckart Schnakenberg In-vitro-verfahren zur diagnose des risikos einer person zur ausbildung eines aerotoxischen syndroms und kit zur durchführung des verfahrens
US12065701B2 (en) 2018-07-19 2024-08-20 Fundació Institut D'investigació En Ciències De La Salut Germans Trias I Pujol In vitro method for the diagnosis of synucleinopathies

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6022683A (en) * 1996-12-16 2000-02-08 Nova Molecular Inc. Methods for assessing the prognosis of a patient with a neurodegenerative disease
GB0323703D0 (en) * 2003-10-09 2003-11-12 Medical Res Council Method
CA3078084C (en) * 2007-07-31 2023-08-15 Cerecin Inc. Use of genomic testing and ketogenic compounds for treatment of reduced cognitive function
EP2360280A1 (en) * 2010-02-24 2011-08-24 Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Genetic marker for the diagnosis of dementia with Lewy bodies

Also Published As

Publication number Publication date
US20130101997A1 (en) 2013-04-25
KR20130043107A (ko) 2013-04-29
SG183437A1 (en) 2012-09-27
IL221313A0 (en) 2012-10-31
MX2012009506A (es) 2012-09-12
CN102869786B (zh) 2014-12-24
RU2012140458A (ru) 2014-03-27
NZ602551A (en) 2014-03-28
ZA201206975B (en) 2015-08-26
BR112012021260A2 (pt) 2017-11-14
WO2011104023A1 (en) 2011-09-01
EP2539461A1 (en) 2013-01-02
CA2789054A1 (en) 2011-09-01
EP2539461B1 (en) 2015-01-07
JP2013520185A (ja) 2013-06-06
CN102869786A (zh) 2013-01-09
AU2011220065A1 (en) 2012-10-11
EP2360280A1 (en) 2011-08-24
KR20130049771A (ko) 2013-05-14

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