ATE288474T1 - Ataxia-telangiectasia gen und dessen genomische organisation - Google Patents

Ataxia-telangiectasia gen und dessen genomische organisation

Info

Publication number
ATE288474T1
ATE288474T1 AT96920236T AT96920236T ATE288474T1 AT E288474 T1 ATE288474 T1 AT E288474T1 AT 96920236 T AT96920236 T AT 96920236T AT 96920236 T AT96920236 T AT 96920236T AT E288474 T1 ATE288474 T1 AT E288474T1
Authority
AT
Austria
Prior art keywords
ataxia
gene
genomic organization
mutations
telangiectasia
Prior art date
Application number
AT96920236T
Other languages
English (en)
Inventor
Yosef Shiloh
Original Assignee
Univ Ramot
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
Priority claimed from US08/441,822 external-priority patent/US5756288A/en
Application filed by Univ Ramot filed Critical Univ Ramot
Application granted granted Critical
Publication of ATE288474T1 publication Critical patent/ATE288474T1/de

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    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/05Animals comprising random inserted nucleic acids (transgenic)
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/07Animals genetically altered by homologous recombination
    • A01K2217/075Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • C12Q1/683Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6834Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6834Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • C12Q1/6837Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Toxicology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Agricultural Chemicals And Associated Chemicals (AREA)
  • Peptides Or Proteins (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Organic Low-Molecular-Weight Compounds And Preparation Thereof (AREA)
AT96920236T 1995-05-16 1996-05-16 Ataxia-telangiectasia gen und dessen genomische organisation ATE288474T1 (de)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US08/441,822 US5756288A (en) 1995-05-16 1995-05-16 Ataxia-telangiectasai gene
US08/629,001 US5858661A (en) 1995-05-16 1996-04-08 Ataxia-telangiectasia gene and its genomic organization
PCT/US1996/007025 WO1996036691A1 (en) 1995-05-16 1996-05-16 Ataxia-telangiectasia gene and its genomic organization

Publications (1)

Publication Number Publication Date
ATE288474T1 true ATE288474T1 (de) 2005-02-15

Family

ID=27032968

Family Applications (1)

Application Number Title Priority Date Filing Date
AT96920236T ATE288474T1 (de) 1995-05-16 1996-05-16 Ataxia-telangiectasia gen und dessen genomische organisation

Country Status (9)

Country Link
US (3) US5858661A (de)
EP (1) EP0826031B1 (de)
JP (1) JPH11505125A (de)
AT (1) ATE288474T1 (de)
AU (1) AU696397B2 (de)
CA (1) CA2217969A1 (de)
DE (1) DE69634296D1 (de)
MX (1) MX9708791A (de)
WO (1) WO1996036691A1 (de)

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US5777093A (en) * 1995-05-16 1998-07-07 Ramot-University Authority For Applied Research & Industrial Development Ltd. cDNAs associated with ataxia-telangiectasia
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WO1997047772A2 (en) * 1996-06-13 1997-12-18 The Regents Of The University Of California Ataxia-telangiectasia: mutations in the atm gene
US5770372A (en) * 1996-11-20 1998-06-23 Virginia Mason Research Center Detection of mutations in the human ATM gene
EP1012577A4 (de) * 1996-12-03 2004-08-04 Michael R Swift Prädisposition für brustkrebs durch mutationen die die position des ataxialangiectasia gens beeinflussen
US6025157A (en) * 1997-02-18 2000-02-15 Genentech, Inc. Neurturin receptor
AU9580398A (en) * 1997-09-29 1999-04-23 City Of Hope Atm exon 24 variant as a cancer marker
US6531583B1 (en) * 1998-01-30 2003-03-11 Uab Research Foundation, The Nucleic acid probes and method for detecting Ureaplasma urealyticum
US6458536B1 (en) * 1999-07-23 2002-10-01 The Regents Of The University Of California Modified SSCP method using sequential electrophoresis of multiple nucleic acid segments
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WO2001053529A2 (en) * 2000-01-20 2001-07-26 Genome Therapeutics Corporation RAPID DETERMINATION OF GENE STRUCTURE USING cDNA SEQUENCE
AU2001239749A1 (en) * 2000-02-18 2001-08-27 Science Applications International Corp. Method for detecting a biological entity in a sample
AU2001276330B2 (en) * 2000-04-06 2006-08-31 Epigenomics Ag Diagnosis of diseases associated with apoptosis
US7455966B1 (en) 2000-05-01 2008-11-25 Science Applications International Corporation System and method for detecting a biological entity in a water sample
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EP1356298B1 (de) 2000-11-30 2011-05-18 Crawford Healthcare Holdings Limited Krankheitsdiagnose
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US6994975B2 (en) 2002-01-08 2006-02-07 The Regents Of The University Of California Expression and purification of ATM protein using vaccinia virus
WO2003095972A2 (en) * 2002-05-09 2003-11-20 The Regents Of The University Of California Method of analyzing ataxia-telangiectasia protein
JP2005532411A (ja) * 2002-07-10 2005-10-27 ロレアル 若白髪に関与する染色体6及び9の遺伝子
FR2842105B1 (fr) * 2002-07-10 2012-12-28 Oreal Localisation des genes impliques dans la canitie precoce
FR2842104B1 (fr) * 2002-07-10 2010-03-05 Oreal Genes impliques dans la canitie precoce
CA2551144C (en) * 2004-01-15 2010-08-24 L'oreal Polymorphisms of chromosome 9 implicated in premature canities
FR2865217B1 (fr) * 2004-01-15 2012-10-19 Oreal Polymorphismes du chromosome 9 impliques dans la canitie precoce
WO2009151698A1 (en) * 2008-03-14 2009-12-17 The Regents Of The University Of California Rapid assay for detecting ataxia-telangiectasia homozygotes and heterozygotes
WO2016116850A1 (en) * 2015-01-19 2016-07-28 Erydel S.P.A. Method of evaluating the response of ataxia telangiectasia patients to glucocorticoids treatment

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US5858661A (en) * 1995-05-16 1999-01-12 Ramot-University Authority For Applied Research And Industrial Development Ataxia-telangiectasia gene and its genomic organization
US5777093A (en) * 1995-05-16 1998-07-07 Ramot-University Authority For Applied Research & Industrial Development Ltd. cDNAs associated with ataxia-telangiectasia
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Also Published As

Publication number Publication date
JPH11505125A (ja) 1999-05-18
US5858661A (en) 1999-01-12
MX9708791A (es) 1998-06-28
CA2217969A1 (en) 1996-11-21
EP0826031B1 (de) 2005-02-02
EP0826031A4 (de) 2000-09-06
WO1996036691A1 (en) 1996-11-21
AU696397B2 (en) 1998-09-10
DE69634296D1 (de) 2005-03-10
US6265158B1 (en) 2001-07-24
AU5860796A (en) 1996-11-29
US6200749B1 (en) 2001-03-13
EP0826031A1 (de) 1998-03-04

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