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WO2002016398A3 - Haplotypes of the bmpr2 gene - Google Patents

Haplotypes of the bmpr2 gene Download PDF

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Publication number
WO2002016398A3
WO2002016398A3 PCT/US2001/026641 US0126641W WO0216398A3 WO 2002016398 A3 WO2002016398 A3 WO 2002016398A3 US 0126641 W US0126641 W US 0126641W WO 0216398 A3 WO0216398 A3 WO 0216398A3
Authority
WO
WIPO (PCT)
Prior art keywords
haplotypes
bmpr2
gene
disclosed
bmpr2 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/US2001/026641
Other languages
French (fr)
Other versions
WO2002016398A2 (en
Inventor
Anne Chew
Stefanie E Kliem
Chad Messer
Angela Sanchis
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 AU2001288423A priority Critical patent/AU2001288423A1/en
Publication of WO2002016398A2 publication Critical patent/WO2002016398A2/en
Publication of WO2002016398A3 publication Critical patent/WO2002016398A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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)
    • 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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Zoology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Novel genetic variants of the Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) (BMPR2) gene are described. Various genotypes, haplotypes, and haplotype pairs that exist in the general United States population are disclosed for the BMPR2 gene. Compositions and methods for haplotyping and/or genotyping the BMPR2 gene in an individual are also disclosed. Polynucleotides defined by the haplotypes disclosed herein are also described.
PCT/US2001/026641 2000-08-25 2001-08-27 Haplotypes of the bmpr2 gene Ceased WO2002016398A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001288423A AU2001288423A1 (en) 2000-08-25 2001-08-27 Haplotypes of the bmpr2 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US22827200P 2000-08-25 2000-08-25
US60/228,272 2000-08-25

Publications (2)

Publication Number Publication Date
WO2002016398A2 WO2002016398A2 (en) 2002-02-28
WO2002016398A3 true WO2002016398A3 (en) 2002-08-08

Family

ID=22856485

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/026641 Ceased WO2002016398A2 (en) 2000-08-25 2001-08-27 Haplotypes of the bmpr2 gene

Country Status (2)

Country Link
AU (1) AU2001288423A1 (en)
WO (1) WO2002016398A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2001276957A1 (en) 2000-07-17 2002-01-30 Advanced Research And Technology Institute Method of diagnosing pulmonary hypertension

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
DENG ET AL.: "Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 67, 20 July 2000 (2000-07-20), pages 737 - 744, XP002909518 *
LANE ET AL.: "Heterozygous germline mutations in BMPR2, encoding a TGF-B receptor, cause familial primary pulmonary hypertension", vol. 26, September 2000 (2000-09-01), pages 81 - 84, XP002907136 *
MACHADO ET AL.: "BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 68, 12 December 2000 (2000-12-12), pages 92 - 102, XP002909517 *
ROSENZWEIG ET AL.: "Cloning and characterization of a human type II receptor for bone morphogenetic proteins", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES USA, vol. 92, August 1995 (1995-08-01), pages 7632 - 7636, XP002021530 *

Also Published As

Publication number Publication date
WO2002016398A2 (en) 2002-02-28
AU2001288423A1 (en) 2002-03-04

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