DE69839671D1 - Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren - Google Patents

Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren

Info

Publication number
DE69839671D1
DE69839671D1 DE69839671T DE69839671T DE69839671D1 DE 69839671 D1 DE69839671 D1 DE 69839671D1 DE 69839671 T DE69839671 T DE 69839671T DE 69839671 T DE69839671 T DE 69839671T DE 69839671 D1 DE69839671 D1 DE 69839671D1
Authority
DE
Germany
Prior art keywords
prelingual
mutation
syndromless
connexin
gene
Prior art date
Legal status (The legal status 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 status listed.)
Expired - Lifetime
Application number
DE69839671T
Other languages
German (de)
English (en)
Inventor
Christine Petit
Francoise Denoyelle-Gryson
Dominique Weil
Sandrine Marlin-Duvernois
Jean-Luc Guesdon
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Institut Pasteur
Original Assignee
Institut Pasteur
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 Institut Pasteur filed Critical Institut Pasteur
Application granted granted Critical
Publication of DE69839671D1 publication Critical patent/DE69839671D1/de
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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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
    • C12Q1/6883—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)
DE69839671T 1997-08-15 1998-08-14 Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren Expired - Lifetime DE69839671D1 (de)

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
DE69839671D1 true DE69839671D1 (de) 2008-08-14

Family

ID=22000653

Family Applications (1)

Application Number Title Priority Date Filing Date
DE69839671T Expired - Lifetime DE69839671D1 (de) 1997-08-15 1998-08-14 Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren

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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US4228805A (en) 1978-11-08 1980-10-21 Rca Corporation Method of measuring blood perfusion
US4709703A (en) 1985-11-12 1987-12-01 Mayo Foundation Imaging system and method using radiopaque microspheres for evaluation of organ tissue perfusion
US5480382A (en) 1989-01-09 1996-01-02 Pilot Cardiovascular Systems, Inc. Steerable medical device
US5552541A (en) * 1990-06-20 1996-09-03 Beckman Instruments, Inc. Haptenic probes for detecting capture polynucleotides
US5190050A (en) 1991-11-08 1993-03-02 Electro-Catheter Corporation Tip deflectable steerable catheter
US5312415A (en) 1992-09-22 1994-05-17 Target Therapeutics, Inc. Assembly for placement of embolic coils using frictional placement
US6165139A (en) 1993-03-01 2000-12-26 Fonar Corporation Remotely steerable guide wire with external control wires
US5769796A (en) 1993-05-11 1998-06-23 Target Therapeutics, Inc. Super-elastic composite guidewire
US5358479A (en) 1993-12-06 1994-10-25 Electro-Catheter Corporation Multiform twistable tip deflectable catheter
US5661122A (en) 1994-04-15 1997-08-26 Genentech, Inc. Treatment of congestive heart failure
US5814062A (en) 1994-12-22 1998-09-29 Target Therapeutics, Inc. Implant delivery assembly with expandable coupling/decoupling mechanism
EP0725136A1 (en) * 1995-02-03 1996-08-07 Institut Pasteur Nucleotide and peptide sequences of the USHER-lB gene diagnostic and therapeutic applications
US5855577A (en) 1996-09-17 1999-01-05 Eclipse Surgical Technologies, Inc. Bow shaped catheter
US6106473A (en) 1996-11-06 2000-08-22 Sts Biopolymers, Inc. Echogenic coatings
US5967991A (en) 1996-12-03 1999-10-19 Echocath, Inc. Drive apparatus for an interventional medical device used in an ultrasonic imaging system
US5876373A (en) 1997-04-04 1999-03-02 Eclipse Surgical Technologies, Inc. Steerable catheter
ATE399860T1 (de) 1997-08-15 2008-07-15 Pasteur Institut Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren
US5984929A (en) 1997-08-29 1999-11-16 Target Therapeutics, Inc. Fast detaching electronically isolated implant
US6179809B1 (en) 1997-09-24 2001-01-30 Eclipse Surgical Technologies, Inc. Drug delivery catheter with tip alignment
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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
DK1003865T3 (da) 2008-11-10
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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