DK1003865T3 - Mutation i Connexin 26 genet ansvarlig for prelingual non-syndromisk dövhed og fremgangsmåde til detektering - Google Patents

Mutation i Connexin 26 genet ansvarlig for prelingual non-syndromisk dövhed og fremgangsmåde til detektering

Info

Publication number
DK1003865T3
DK1003865T3 DK98945246T DK98945246T DK1003865T3 DK 1003865 T3 DK1003865 T3 DK 1003865T3 DK 98945246 T DK98945246 T DK 98945246T DK 98945246 T DK98945246 T DK 98945246T DK 1003865 T3 DK1003865 T3 DK 1003865T3
Authority
DK
Denmark
Prior art keywords
mutation
connexin
detection method
syndromic deafness
gene responsible
Prior art date
Application number
DK98945246T
Other languages
Danish (da)
English (en)
Inventor
Christine Petit
Dominique Weil
Sandrine Marlin-Duvernois
Jean-Luc Guesdon
Francoise Denoyelle-Gryson
Original Assignee
Pasteur Institut
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 Pasteur Institut filed Critical Pasteur Institut
Application granted granted Critical
Publication of DK1003865T3 publication Critical patent/DK1003865T3/da

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    • 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
    • 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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
DK98945246T 1997-08-15 1998-08-14 Mutation i Connexin 26 genet ansvarlig for prelingual non-syndromisk dövhed og fremgangsmåde til detektering DK1003865T3 (da)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US5586397P 1997-08-15 1997-08-15
PCT/EP1998/005175 WO1999009210A2 (en) 1997-08-15 1998-08-14 Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection

Publications (1)

Publication Number Publication Date
DK1003865T3 true DK1003865T3 (da) 2008-11-10

Family

ID=22000653

Family Applications (1)

Application Number Title Priority Date Filing Date
DK98945246T DK1003865T3 (da) 1997-08-15 1998-08-14 Mutation i Connexin 26 genet ansvarlig for prelingual non-syndromisk dövhed og fremgangsmåde til detektering

Country Status (11)

Country Link
US (7) US5998147A (enExample)
EP (1) EP1003865B1 (enExample)
JP (1) JP4418587B2 (enExample)
AT (1) ATE399860T1 (enExample)
CA (3) CA2852463C (enExample)
CY (1) CY1108771T1 (enExample)
DE (1) DE69839671D1 (enExample)
DK (1) DK1003865T3 (enExample)
ES (1) ES2308813T3 (enExample)
PT (1) PT1003865E (enExample)
WO (1) WO1999009210A2 (enExample)

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ATE399860T1 (de) * 1997-08-15 2008-07-15 Pasteur Institut Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren
US6013449A (en) * 1997-11-26 2000-01-11 The United States Of America As Represented By The Department Of Health And Human Services Probe-based analysis of heterozygous mutations using two-color labelling
WO2002061410A1 (en) * 2000-09-01 2002-08-08 Spectrumedix Corporation System and method for temperature gradient capillary electrophoresis
WO2002031199A1 (en) * 2000-10-11 2002-04-18 Spectrumedix Corporation System and method for determining the presence of methylated cytosines in polynucleotides
JP2005504534A (ja) 2001-09-19 2005-02-17 アメリカ合衆国政府 トランスダクチン−１及びトランスダクチン−２並びに遺伝性聴覚障害への適用
WO2003033743A1 (en) * 2001-10-18 2003-04-24 Spectrumedix Corporation System and method for temperature gradient capillary electrophoresis
NL1019226C2 (nl) * 2001-10-25 2003-04-28 Multigen Holding S A Werkwijze voor het detecteren van een mutatie die verband houdt met plaveiselcelcarcinoom.
EP1308458A1 (en) * 2001-10-30 2003-05-07 GenOdyssee New polynucleotides and polypeptides of the CX26 gene
US6872530B2 (en) * 2002-04-24 2005-03-29 Spectrumedix, Llc Method for determining the presence of DNA variants using peptide nucleic acid probes
AU2003253922A1 (en) * 2002-07-15 2004-02-02 Spectrumedix Llc System and method for determining known dna variants with temperature gradient electrophoresis
WO2004007690A2 (en) * 2002-07-16 2004-01-22 Spectrumedix Llc Method and system for comparative genomics for organisms using temperature gradient electrophoresis
AU2002952702A0 (en) * 2002-11-18 2002-11-28 Murdoch Childrens Research Institute A diagnostic assay
US7700750B2 (en) * 2003-01-09 2010-04-20 Third Wave Technologies, Inc. Connexin allele detection assays
US20040166495A1 (en) * 2003-02-24 2004-08-26 Greinwald John H. Microarray-based diagnosis of pediatric hearing impairment-construction of a deafness gene chip
US7303879B2 (en) * 2003-07-31 2007-12-04 Applera Corporation Determination of SNP allelic frequencies using temperature gradient electrophoresis
US7166433B2 (en) 2004-03-03 2007-01-23 The United States Of America As Represented By The Department Of Health And Human Services Transductin-1 and transductin-2 and applications to hereditary deafness
US7276804B2 (en) * 2005-06-22 2007-10-02 C.E. Niehoff & Co. Voltage regulator with improved protection and warning system
US20070134691A1 (en) * 2005-11-21 2007-06-14 Iris Schrijver Methods and compositions for determining whether a subject carries a gene mutation associated with hereditary hearing loss
CA3141309A1 (en) * 2019-05-22 2020-11-26 Regeneron Pharmaceuticals, Inc. Synaptojanin 2 (synj2) variants and uses thereof

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Also Published As

Publication number Publication date
US20120322059A1 (en) 2012-12-20
CA2301301C (en) 2010-12-07
US9868989B2 (en) 2018-01-16
JP4418587B2 (ja) 2010-02-17
US9169517B2 (en) 2015-10-27
EP1003865B1 (en) 2008-07-02
US8143000B2 (en) 2012-03-27
US20160076101A1 (en) 2016-03-17
US6485908B1 (en) 2002-11-26
WO1999009210A2 (en) 1999-02-25
CA2720384C (en) 2014-08-12
US20090104600A1 (en) 2009-04-23
PT1003865E (pt) 2008-10-14
US20030170676A1 (en) 2003-09-11
ATE399860T1 (de) 2008-07-15
CA2301301A1 (en) 1999-02-25
US7258975B2 (en) 2007-08-21
CY1108771T1 (el) 2014-04-09
WO1999009210A3 (en) 1999-04-15
DE69839671D1 (de) 2008-08-14
JP2001514904A (ja) 2001-09-18
CA2720384A1 (en) 1999-02-25
US5998147A (en) 1999-12-07
CA2852463C (en) 2017-08-29
US8455195B2 (en) 2013-06-04
CA2852463A1 (en) 1999-02-25
EP1003865A2 (en) 2000-05-31
ES2308813T3 (es) 2008-12-01
US20140113285A1 (en) 2014-04-24

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