PT1003865E - Mutação no gene conexina 26 responsável pela surdez prélingual não sindromática e método de detecção - Google Patents
Mutação no gene conexina 26 responsável pela surdez prélingual não sindromática e método de detecção Download PDFInfo
- Publication number
- PT1003865E PT1003865E PT98945246T PT98945246T PT1003865E PT 1003865 E PT1003865 E PT 1003865E PT 98945246 T PT98945246 T PT 98945246T PT 98945246 T PT98945246 T PT 98945246T PT 1003865 E PT1003865 E PT 1003865E
- Authority
- PT
- Portugal
- Prior art keywords
- mutation
- connexin
- detection
- syndromic deafness
- gene responsible
- Prior art date
Links
- 230000035772 mutation Effects 0.000 title abstract 2
- 201000006790 nonsyndromic deafness Diseases 0.000 title abstract 2
- 108010069156 Connexin 26 Proteins 0.000 title 1
- 238000001514 detection method Methods 0.000 title 1
- 238000000034 method Methods 0.000 title 1
- 239000002773 nucleotide Substances 0.000 abstract 2
- 125000003729 nucleotide group Chemical group 0.000 abstract 2
- 239000002157 polynucleotide Substances 0.000 abstract 2
- 102000040430 polynucleotide Human genes 0.000 abstract 2
- 108091033319 polynucleotide Proteins 0.000 abstract 2
- 230000007547 defect Effects 0.000 abstract 1
- 230000037430 deletion Effects 0.000 abstract 1
- 238000012217 deletion Methods 0.000 abstract 1
- 229920001184 polypeptide Polymers 0.000 abstract 1
- 102000004196 processed proteins & peptides Human genes 0.000 abstract 1
- 108090000765 processed proteins & peptides Proteins 0.000 abstract 1
- 230000001953 sensory effect Effects 0.000 abstract 1
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)
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US5586397P | 1997-08-15 | 1997-08-15 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| PT1003865E true PT1003865E (pt) | 2008-10-14 |
Family
ID=22000653
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PT98945246T PT1003865E (pt) | 1997-08-15 | 1998-08-14 | Mutação no gene conexina 26 responsável pela surdez prélingual não sindromática e método de detecção |
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) |
Families Citing this family (19)
| 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 |
Family Cites Families (24)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| JP4065663B2 (ja) | 1997-10-02 | 2008-03-26 | ボストン サイエンティフィック リミテッド | 繊維を体内へと送達するためのデバイス |
| US6053870A (en) | 1997-11-08 | 2000-04-25 | Angiodynamics, Inc. | Ultrasonic visible surgical needle |
| US6248112B1 (en) | 1998-09-30 | 2001-06-19 | C. R. Bard, Inc. | Implant delivery system |
| US6146339A (en) | 1999-05-24 | 2000-11-14 | Advanced Cardiovascular Systems | Guide wire with operator controllable tip stiffness |
| US6277082B1 (en) | 1999-07-22 | 2001-08-21 | C. R. Bard, Inc. | Ischemia detection system |
-
1998
- 1998-08-14 AT AT98945246T patent/ATE399860T1/de active
- 1998-08-14 US US09/134,566 patent/US5998147A/en not_active Expired - Lifetime
- 1998-08-14 DE DE69839671T patent/DE69839671D1/de not_active Expired - Lifetime
- 1998-08-14 WO PCT/EP1998/005175 patent/WO1999009210A2/en not_active Ceased
- 1998-08-14 ES ES98945246T patent/ES2308813T3/es not_active Expired - Lifetime
- 1998-08-14 EP EP98945246A patent/EP1003865B1/en not_active Expired - Lifetime
- 1998-08-14 PT PT98945246T patent/PT1003865E/pt unknown
- 1998-08-14 JP JP2000509871A patent/JP4418587B2/ja not_active Expired - Lifetime
- 1998-08-14 DK DK98945246T patent/DK1003865T3/da active
- 1998-08-14 CA CA2852463A patent/CA2852463C/en not_active Expired - Lifetime
- 1998-08-14 CA CA2720384A patent/CA2720384C/en not_active Expired - Lifetime
- 1998-08-14 CA CA2301301A patent/CA2301301C/en not_active Expired - Lifetime
- 1998-08-14 US US09/485,415 patent/US6485908B1/en not_active Expired - Lifetime
-
2002
- 2002-10-23 US US10/278,089 patent/US7258975B2/en not_active Expired - Fee Related
-
2007
- 2007-07-12 US US11/826,141 patent/US8143000B2/en not_active Expired - Fee Related
-
2008
- 2008-09-24 CY CY20081101032T patent/CY1108771T1/el unknown
-
2012
- 2012-03-26 US US13/430,062 patent/US8455195B2/en not_active Expired - Fee Related
-
2013
- 2013-05-22 US US13/899,963 patent/US9169517B2/en not_active Expired - Fee Related
-
2015
- 2015-09-18 US US14/858,666 patent/US9868989B2/en not_active Expired - Fee Related
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 |
| 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 |
| 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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