WO2002012498A3 - Haplotypes of the isl1 gene - Google Patents

Haplotypes of the isl1 gene Download PDF

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Publication number
WO2002012498A3
WO2002012498A3 PCT/US2001/024664 US0124664W WO0212498A3 WO 2002012498 A3 WO2002012498 A3 WO 2002012498A3 US 0124664 W US0124664 W US 0124664W WO 0212498 A3 WO0212498 A3 WO 0212498A3
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WO
WIPO (PCT)
Prior art keywords
isl1
haplotypes
gene
disclosed
isl1 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.)
Ceased
Application number
PCT/US2001/024664
Other languages
French (fr)
Other versions
WO2002012498A2 (en
Inventor
Stefanie E Kliem
Beena Koshy
Debra A Tanguay
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.)
Cogenics Inc
Original Assignee
Genaissance Pharmaceuticals Inc
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 Genaissance Pharmaceuticals Inc filed Critical Genaissance Pharmaceuticals Inc
Priority to AU2001281123A priority Critical patent/AU2001281123A1/en
Publication of WO2002012498A2 publication Critical patent/WO2002012498A2/en
Anticipated expiration legal-status Critical
Publication of WO2002012498A3 publication Critical patent/WO2002012498A3/en
Ceased legal-status Critical Current

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    • 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
    • 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
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4702—Regulators; Modulating activity
    • 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

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  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Novel genetic variants of the ISL1 Transcription Factor, LIM/Homeodomain, (islet-1) (ISL1) gene are described. Various genotypes, haplotypes, and haplotype pairs that exist in the general United States population are disclosed for the ISL1 gene. Compositions and methods for haplotyping and/or genotyping the ISL1 gene in an individual are also disclosed. Polynucleotides defined by the haplotypes disclosed herein are also described.
PCT/US2001/024664 2000-08-04 2001-08-06 Haplotypes of the isl1 gene Ceased WO2002012498A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001281123A AU2001281123A1 (en) 2000-08-04 2001-08-06 Haplotypes of the isl1 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US22353500P 2000-08-04 2000-08-04
US60/223,535 2000-08-04

Publications (2)

Publication Number Publication Date
WO2002012498A2 WO2002012498A2 (en) 2002-02-14
WO2002012498A3 true WO2002012498A3 (en) 2003-08-28

Family

ID=22836925

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/024664 Ceased WO2002012498A2 (en) 2000-08-04 2001-08-06 Haplotypes of the isl1 gene

Country Status (2)

Country Link
AU (1) AU2001281123A1 (en)
WO (1) WO2002012498A2 (en)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JPWO2004024911A1 (en) * 2002-08-30 2006-01-05 独立行政法人理化学研究所 Motor neuron / sensory neuron specific enhancer
CN1768133A (en) 2003-01-31 2006-05-03 加利福尼亚大学董事会 Isolate or generate stem cells using ISLET1 as a marker
US20080108090A1 (en) 2004-02-02 2008-05-08 The Regents Of The University Of California Methods of identifying small molecules for renewal, survival and migration of cardiac progenitors

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993005783A1 (en) * 1991-09-20 1993-04-01 The General Hospital Corporation Diagnosis and therapy for parkinson's disease
US5972614A (en) * 1995-12-06 1999-10-26 Genaissance Pharmaceuticals Genome anthologies for harvesting gene variants
WO2001080156A1 (en) * 2000-04-18 2001-10-25 Genaissance Pharmaceuticals, Inc. Method and system for determining haplotypes from a collection of polymorphisms

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993005783A1 (en) * 1991-09-20 1993-04-01 The General Hospital Corporation Diagnosis and therapy for parkinson's disease
US5972614A (en) * 1995-12-06 1999-10-26 Genaissance Pharmaceuticals Genome anthologies for harvesting gene variants
WO2001080156A1 (en) * 2000-04-18 2001-10-25 Genaissance Pharmaceuticals, Inc. Method and system for determining haplotypes from a collection of polymorphisms

Non-Patent Citations (12)

* Cited by examiner, † Cited by third party
Title
[online] 17 September 1999 (1999-09-17), DOE JOINT GENOME INSTITUTE STANFORD HUMAN GENOME CENTER: "Homo sapiens chromosome 5 clone CTD-2314G24, complete sequence", XP002226954, retrieved from EM_HUM Database accession no. AC010478 *
CLAIBORNE STEPHENS J: "SINGLE-NUCLEOTIDE POLYMORPHISMS, HAPLOTYPES AND THEIR RELEVANCE TO PHARMACOGENTICS", MOLECULAR DIAGNOSIS, NAPERVILLE, IL, US, vol. 4, no. 4, 1999, pages 309 - 317, XP002937520, ISSN: 1084-8592 *
CLARK A G ET AL: "HAPLOTYPE STRUCTURE AND POPULATION GENETIC INFERENCES FROM NUCLEOTIDE- SEQUENCE VARIATION IN HUMAN LIPOPROTEIN LIPASE", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 63, 1998, pages 595 - 612, XP002937239, ISSN: 0002-9297 *
DRYSDALE C M ET AL: "COMPLEX PROMOTER AND CODING REGION BETA2-ADRENERGIC RECEPTOR HAPLOTYPES ALTER RECEPTOR EXPRESSION AND PREDICT IN VIVO RESPONSIVENESS", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 97, no. 19, 12 September 2000 (2000-09-12), pages 10483 - 10488, XP002940094, ISSN: 0027-8424 *
EMILIEN G ET AL: "IMPACT OF GENOMICS ON DRUG DISCOVERY AND CLINICAL MEDICINE", QUARTERLY JOURNAL OF MEDICINE, CLARENDON PRESS, OXFORD, GB, vol. 93, no. 7, June 2000 (2000-06-01), pages 391 - 423, XP000941207, ISSN: 0033-5622 *
JUDSON R ET AL: "THE PREDICTIVE POWER OF HAPLOTYPES IN CLINICAL RESPONSE", PHARMACOGENOMICS, ASHLEY PUBLICATIONS, GB, vol. 1, no. 1, February 2000 (2000-02-01), pages 15 - 26, XP001113104, ISSN: 1462-2416 *
LU ANTONY Y H: "Drug-metabolism research challenges in the new millennium: Individual variability in drug therapy and drug safety.", DRUG METABOLISM AND DISPOSITION, vol. 26, no. 12, December 1998 (1998-12-01), pages 1217 - 1222, XP002223866, ISSN: 0090-9556 *
MAREZ D ET AL: "Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution", PHARMACOGENETICS, CHAPMAN & HALL, LONDON, GB, vol. 7, no. 3, 1997, pages 193 - 202, XP002955538, ISSN: 0960-314X *
RIGGS A C ET AL: "Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM.", DIABETES. UNITED STATES JUN 1995, vol. 44, no. 6, June 1995 (1995-06-01), pages 689 - 694, XP002226953, ISSN: 0012-1797 *
RUANO G ET AL: "GENOTYPING AND HAPLOTYPING OF POLYMORPHISMS DIRECTLY FROM GENOMIC DNA VIA COUPLED AMPLIFICATION AND SEQUENCING (CAS)", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 19, no. 24, 1991, pages 6877 - 6882, XP000197814, ISSN: 0305-1048 *
RUANO: "Genaissance awarded broad patent on methods for collecting genes for variation analysis across populations", GENAISSANCE PRESS RELEASE, 8 November 1999 (1999-11-08), XP002229209, Retrieved from the Internet <URL:WWW.biomedicine.ch/publications/genaissance/g111199.html> [retrieved on 20030226] *
ULBRECHT M ET AL: "Assoziation of beta 2-adrenoreceptor variants with bronchial hyperresponsiveness", AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, AMERICAN LUNG ASSOCIATION, NEW YORK, NY, US, vol. 161, no. 2, February 2000 (2000-02-01), pages 469 - 474, XP002188594, ISSN: 1073-449X *

Also Published As

Publication number Publication date
AU2001281123A1 (en) 2002-02-18
WO2002012498A2 (en) 2002-02-14

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