JP2003530814A - 不整脈に関連するヒトｍｉｎｋ遺伝子突然変異 - Google Patents

不整脈に関連するヒトｍｉｎｋ遺伝子突然変異

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Publication number
JP2003530814A
JP2003530814A JP2000562396A JP2000562396A JP2003530814A JP 2003530814 A JP2003530814 A JP 2003530814A JP 2000562396 A JP2000562396 A JP 2000562396A JP 2000562396 A JP2000562396 A JP 2000562396A JP 2003530814 A JP2003530814 A JP 2003530814A
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JP
Japan
Prior art keywords
kcne1
kvlqt1
seq
base
residue
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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.)
Pending
Application number
JP2000562396A
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English (en)
Japanese (ja)
Other versions
JP2003530814A5 (cg-RX-API-DMAC7.html
Inventor
マーク・ティ・キィーティング
マイケル・シー・サングイネッティ
イゴア・スプラウスキ
Original Assignee
ユニバーシティ・オブ・ユタ・リサーチ・ファウンデーション
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First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=26788932&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=JP2003530814(A) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by ユニバーシティ・オブ・ユタ・リサーチ・ファウンデーション filed Critical ユニバーシティ・オブ・ユタ・リサーチ・ファウンデーション
Publication of JP2003530814A publication Critical patent/JP2003530814A/ja
Publication of JP2003530814A5 publication Critical patent/JP2003530814A5/ja
Pending legal-status Critical Current

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • 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
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • 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
    • 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
    • C12Q2600/172—Haplotypes
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10T—TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
    • Y10T436/00—Chemistry: analytical and immunological testing
    • Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333—Saccharide [e.g., DNA, etc.]

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Toxicology (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Cell Biology (AREA)
  • Pathology (AREA)
  • Plant Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
JP2000562396A 1998-07-29 1998-10-06 不整脈に関連するヒトｍｉｎｋ遺伝子突然変異 Pending JP2003530814A (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US9447798P 1998-07-29 1998-07-29
US60/094,477 1998-07-29
US09/135,020 1998-08-17
US09/135,020 US6274332B1 (en) 1995-12-22 1998-08-17 Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
PCT/US1998/017838 WO2000006600A1 (en) 1998-07-29 1998-10-06 Human mink gene mutations associated with arrhythmia

Publications (2)

Publication Number Publication Date
JP2003530814A true JP2003530814A (ja) 2003-10-21
JP2003530814A5 JP2003530814A5 (cg-RX-API-DMAC7.html) 2006-01-05

Family

ID=26788932

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2000562396A Pending JP2003530814A (ja) 1998-07-29 1998-10-06 不整脈に関連するヒトｍｉｎｋ遺伝子突然変異

Country Status (8)

Country Link
US (6) US6274332B1 (cg-RX-API-DMAC7.html)
EP (1) EP1100825B1 (cg-RX-API-DMAC7.html)
JP (1) JP2003530814A (cg-RX-API-DMAC7.html)
KR (1) KR20010085315A (cg-RX-API-DMAC7.html)
AT (1) ATE359299T1 (cg-RX-API-DMAC7.html)
CA (1) CA2337491C (cg-RX-API-DMAC7.html)
DE (1) DE69837565T2 (cg-RX-API-DMAC7.html)
WO (1) WO2000006600A1 (cg-RX-API-DMAC7.html)

Families Citing this family (19)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6274332B1 (en) * 1995-12-22 2001-08-14 Univ. Of Utah Research Foundation Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
WO2001027323A1 (en) * 1999-10-08 2001-04-19 Vanderbilt University Method of screening for susceptibility to drug-induced cardiac arrhythmia
US7115726B2 (en) * 2001-03-30 2006-10-03 Perlegen Sciences, Inc. Haplotype structures of chromosome 21
AU2002258922A1 (en) * 2001-04-24 2002-11-05 University Of Utah Research Foundation Method for assessing risk for cardiac dysrhythmia in a human subject
US20040053232A1 (en) * 2001-10-05 2004-03-18 Perlegen Sciences, Inc. Haplotype structures of chromosome 21
US20030073085A1 (en) * 2001-10-05 2003-04-17 Fang Lai Amplifying expressed sequences from genomic DNA of higher-order eukaryotic organisms for DNA arrays
US8013133B2 (en) 2003-04-25 2011-09-06 Medtronic, Inc. Genetic modification of targeted regions of the cardiac conduction system
US7537928B2 (en) * 2003-08-22 2009-05-26 Masonic Medical Research Laboratory Mutations in ion channel proteins associated with sudden cardiac death
WO2005078452A1 (en) * 2004-02-05 2005-08-25 Medtronic, Inc. Methods and apparatus for identifying patients at risk for life threatening arrhythmias
US7608458B2 (en) * 2004-02-05 2009-10-27 Medtronic, Inc. Identifying patients at risk for life threatening arrhythmias
US7127355B2 (en) 2004-03-05 2006-10-24 Perlegen Sciences, Inc. Methods for genetic analysis
US20090087854A1 (en) * 2007-09-27 2009-04-02 Perlegen Sciences, Inc. Methods for genetic analysis
US8027791B2 (en) * 2004-06-23 2011-09-27 Medtronic, Inc. Self-improving classification system
US20050287574A1 (en) * 2004-06-23 2005-12-29 Medtronic, Inc. Genetic diagnostic method for SCD risk stratification
US8335652B2 (en) * 2004-06-23 2012-12-18 Yougene Corp. Self-improving identification method
US7833718B2 (en) * 2006-11-06 2010-11-16 Masonic Medical Research Laboratory CACNA1C nucleic acid mutations as indicators of shorter than normal QT interval and ST segment elevation associated with sudden cardiac death
US20110143956A1 (en) * 2007-11-14 2011-06-16 Medtronic, Inc. Diagnostic Kits and Methods for SCD or SCA Therapy Selection
US20090131276A1 (en) * 2007-11-14 2009-05-21 Medtronic, Inc. Diagnostic kits and methods for scd or sca therapy selection
WO2010132546A2 (en) * 2009-05-12 2010-11-18 Medtronic, Inc. Sca risk stratification by predicting patient response to anti-arrhythmics

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5397702A (en) * 1989-03-06 1995-03-14 The Regents Of The University Of California Assay for and treatment of autoimmune diseases
US5387702A (en) * 1993-09-29 1995-02-07 Council Of Scientific And Industrial Research Process for the preparation of cabofuran
US6274332B1 (en) * 1995-12-22 2001-08-14 Univ. Of Utah Research Foundation Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
ES2325820T3 (es) * 1995-12-22 2009-09-18 University Of Utah Research Foundation Gen del sindrome qt largo que codifica kvlqt1 y su asociacion con mink.
US6150104A (en) * 1997-06-13 2000-11-21 University Of Utah Research Foundation Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
US6207383B1 (en) * 1998-07-27 2001-03-27 University Of Utah Research Foundation Mutations in and genomic structure of HERG—a long QT syndrome gene

Also Published As

Publication number Publication date
US20040235038A1 (en) 2004-11-25
KR20010085315A (ko) 2001-09-07
EP1100825A1 (en) 2001-05-23
US20050003439A1 (en) 2005-01-06
CA2337491A1 (en) 2000-02-10
US20030054380A1 (en) 2003-03-20
US6323026B1 (en) 2001-11-27
EP1100825B1 (en) 2007-04-11
DE69837565T2 (de) 2007-12-27
US6274332B1 (en) 2001-08-14
US6432644B1 (en) 2002-08-13
ATE359299T1 (de) 2007-05-15
EP1100825A4 (en) 2003-06-11
WO2000006600A1 (en) 2000-02-10
DE69837565D1 (de) 2007-05-24
CA2337491C (en) 2010-06-22
US7247436B2 (en) 2007-07-24

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