WO2008121727A8 - Identification de la mutation causale pour une asthénie dermique régionale équine héréditaire et procédé pour la tester - Google Patents

Identification de la mutation causale pour une asthénie dermique régionale équine héréditaire et procédé pour la tester Download PDF

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Publication number
WO2008121727A8
WO2008121727A8 PCT/US2008/058487 US2008058487W WO2008121727A8 WO 2008121727 A8 WO2008121727 A8 WO 2008121727A8 US 2008058487 W US2008058487 W US 2008058487W WO 2008121727 A8 WO2008121727 A8 WO 2008121727A8
Authority
WO
WIPO (PCT)
Prior art keywords
identification
causative mutation
testing same
hereditary
dermal asthenia
Prior art date
Application number
PCT/US2008/058487
Other languages
English (en)
Other versions
WO2008121727A1 (fr
Inventor
Nena J Winand
Original Assignee
Univ Cornell
Nena J Winand
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 Cornell, Nena J Winand filed Critical Univ Cornell
Priority to AU2008232747A priority Critical patent/AU2008232747B2/en
Priority to CA2682232A priority patent/CA2682232C/fr
Publication of WO2008121727A1 publication Critical patent/WO2008121727A1/fr
Publication of WO2008121727A8 publication Critical patent/WO2008121727A8/fr

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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
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6888—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
    • 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
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

L'invention concerne des procédés pour déterminer si un cheval est génétiquement normal ou non, s'il est porteur d'une asthénie dermique régionale équine héréditaire ('HERA'), ou s'il est atteint de celle-ci ou prédisposé à celle-ci. Le procédé est fondé sur la détection d'une mutation de points G à A dans le gène de cyclophiline B (CYPB) du cheval.
PCT/US2008/058487 2007-03-29 2008-03-27 Identification de la mutation causale pour une asthénie dermique régionale équine héréditaire et procédé pour la tester WO2008121727A1 (fr)

Priority Applications (2)

Application Number Priority Date Filing Date Title
AU2008232747A AU2008232747B2 (en) 2007-03-29 2008-03-27 Identification of the causative mutation for Hereditary Equine Regional Dermal Asthenia and a method for testing same
CA2682232A CA2682232C (fr) 2007-03-29 2008-03-27 Detection d'une mutation contresens g a a dans le gene cypb pour l'identification de l'asthenie dermique regionale equine heriditaire

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US92071507P 2007-03-29 2007-03-29
US60/920,715 2007-03-29

Publications (2)

Publication Number Publication Date
WO2008121727A1 WO2008121727A1 (fr) 2008-10-09
WO2008121727A8 true WO2008121727A8 (fr) 2009-08-06

Family

ID=39808663

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2008/058487 WO2008121727A1 (fr) 2007-03-29 2008-03-27 Identification de la mutation causale pour une asthénie dermique régionale équine héréditaire et procédé pour la tester

Country Status (3)

Country Link
AU (1) AU2008232747B2 (fr)
CA (1) CA2682232C (fr)
WO (1) WO2008121727A1 (fr)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7608400B2 (en) 2006-09-18 2009-10-27 The Regents Of The University Of California Methods for detecting a cyclophilin B SNP associated with HERDA
WO2012158711A1 (fr) * 2011-05-16 2012-11-22 Cornell University Identification de la mutation responsable de troubles du tissu conjonctif héréditaires chez les équidés

Also Published As

Publication number Publication date
AU2008232747A1 (en) 2008-10-09
CA2682232A1 (fr) 2008-10-09
CA2682232C (fr) 2017-08-22
AU2008232747B2 (en) 2013-05-16
WO2008121727A1 (fr) 2008-10-09

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