ATE486963T1 - Mit dem long-qt-syndrom assoziierte mutationen und diagnostische verwendung davon - Google Patents

Mit dem long-qt-syndrom assoziierte mutationen und diagnostische verwendung davon

Info

Publication number
ATE486963T1
ATE486963T1 AT06763551T AT06763551T ATE486963T1 AT E486963 T1 ATE486963 T1 AT E486963T1 AT 06763551 T AT06763551 T AT 06763551T AT 06763551 T AT06763551 T AT 06763551T AT E486963 T1 ATE486963 T1 AT E486963T1
Authority
AT
Austria
Prior art keywords
termed
identification
syndrome
long
kcnh2
Prior art date
Application number
AT06763551T
Other languages
English (en)
Inventor
Silvia Giuliana Priori
Original Assignee
Fond Salvatore Maugeri Clinica
Univ Pavia
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 Fond Salvatore Maugeri Clinica, Univ Pavia filed Critical Fond Salvatore Maugeri Clinica
Application granted granted Critical
Publication of ATE486963T1 publication Critical patent/ATE486963T1/de

Links

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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Hydrogenated Pyridines (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
AT06763551T 2005-06-07 2006-06-07 Mit dem long-qt-syndrom assoziierte mutationen und diagnostische verwendung davon ATE486963T1 (de)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
IT001047A ITMI20051047A1 (it) 2005-06-07 2005-06-07 Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico
PCT/EP2006/062956 WO2006131528A2 (en) 2005-06-07 2006-06-07 Mutations associated with the long qt syndrome and diagnostic use thereof

Publications (1)

Publication Number Publication Date
ATE486963T1 true ATE486963T1 (de) 2010-11-15

Family

ID=37074183

Family Applications (1)

Application Number Title Priority Date Filing Date
AT06763551T ATE486963T1 (de) 2005-06-07 2006-06-07 Mit dem long-qt-syndrom assoziierte mutationen und diagnostische verwendung davon

Country Status (6)

Country Link
US (1) US20090220949A1 (de)
EP (1) EP1891235B1 (de)
AT (1) ATE486963T1 (de)
DE (1) DE602006018003D1 (de)
IT (1) ITMI20051047A1 (de)
WO (1) WO2006131528A2 (de)

Families Citing this family (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8335652B2 (en) 2004-06-23 2012-12-18 Yougene Corp. Self-improving identification method
US8027791B2 (en) 2004-06-23 2011-09-27 Medtronic, Inc. Self-improving classification system
US9074256B2 (en) 2009-04-06 2015-07-07 Vanda Pharmaceuticals, Inc. Method of predicting a predisposition to QT prolongation
JP5881597B2 (ja) 2009-04-06 2016-03-09 ヴァンダ ファーマシューティカルズ インコーポレイテッド Ｑｔ延長に対する素因を予測する方法
US9072742B2 (en) 2009-04-06 2015-07-07 Vanda Pharmaceuticals, Inc. Method of predicting a predisposition to QT prolongation
WO2010117931A1 (en) 2009-04-06 2010-10-14 Vanda Pharmaceuticals, Inc. Method of treatment based on polymorphisms of the kcnq1 gene
WO2011035239A1 (en) * 2009-09-18 2011-03-24 Cornell University Kcnq1 and kcne2 in thyroid disease
BR112013017445A2 (pt) * 2011-01-06 2016-08-23 Univ Illinois métodos de determinar a necessidade de um indivíduo para um desfibrilador cardíaco implantado (icd) e para uma terrapia antiarrítmica, de determinar o risco de um indivíduo para uma morte cardiáca súbita, para arritmias e para insuficiência cardíaca, de reduzir risco de morte cardíaca súbita em um indivíduo, kit, sistema, meio de armazenamento legível por computador, e, método implementado por um processador em um computador
WO2012149406A2 (en) * 2011-04-29 2012-11-01 Mayo Foundation For Medical Education And Research Assessing and treating humans with long qt syndrome
CN104561310B (zh) * 2015-01-04 2019-02-05 西安百思达生物科技有限公司 心源性猝死突变基因检测试剂盒
WO2016118118A1 (en) * 2015-01-20 2016-07-28 Oregon Health & Science University Modulation of kcnh2 isoform expression by oligonucleotides as a therapeutic approach for long qt syndrome
CN110577989B (zh) * 2019-09-04 2020-11-10 珠海赛乐奇生物技术股份有限公司 用于检测运动性猝死相关基因的探针、基因芯片及试剂盒
WO2022147249A1 (en) * 2020-12-30 2022-07-07 Mayo Foundation For Medical Education And Research Suppression-replacement gene therapy
CN115725721A (zh) * 2022-10-25 2023-03-03 百世诺（北京）医疗科技有限公司 用于检测长qt综合征致病基因kcnq1和kcnh2的试剂及其应用
CN116200395A (zh) * 2022-12-20 2023-06-02 百世诺（北京）医疗科技有限公司 长qt综合征kcnq1变异基因及其应用
CN117487907B (zh) * 2023-12-29 2024-04-23 湖南家辉生物技术有限公司 Kcnh2基因突变体、突变体蛋白、试剂、试剂盒及应用

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5599673A (en) * 1995-03-09 1997-02-04 University Of Utah Research Foundation Long QT syndrome genes
AU779477B2 (en) * 1999-08-09 2005-01-27 University Of Utah Research Foundation Alterations in the long QT syndrome genes KVLQT1 and SCN5A and methods for detecting same
AU2003286340A1 (en) * 2002-12-21 2004-07-14 Pfizer Products Inc. Methods and compositions relating to drug-induced arrhythmia
US7537928B2 (en) * 2003-08-22 2009-05-26 Masonic Medical Research Laboratory Mutations in ion channel proteins associated with sudden cardiac death
US20050142591A1 (en) * 2003-10-29 2005-06-30 Ackerman Michael J. Method of genetic testing in heritable arrhythmia syndrome patients

Also Published As

Publication number Publication date
DE602006018003D1 (de) 2010-12-16
EP1891235A2 (de) 2008-02-27
EP1891235B1 (de) 2010-11-03
US20090220949A1 (en) 2009-09-03
WO2006131528A3 (en) 2007-03-29
ITMI20051047A1 (it) 2006-12-08
WO2006131528A2 (en) 2006-12-14

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