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WO2001094365A3 - Haplotypes du gene phkg2 - Google Patents

Haplotypes du gene phkg2 Download PDF

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Publication number
WO2001094365A3
WO2001094365A3 PCT/US2001/018814 US0118814W WO0194365A3 WO 2001094365 A3 WO2001094365 A3 WO 2001094365A3 US 0118814 W US0118814 W US 0118814W WO 0194365 A3 WO0194365 A3 WO 0194365A3
Authority
WO
WIPO (PCT)
Prior art keywords
haplotypes
phkg2
gene
disclosed
phkg2 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/US2001/018814
Other languages
English (en)
Other versions
WO2001094365A2 (fr
Inventor
Julie Y Choi
Beena Koshy
Angela Sanchis
Elizabeth Ann Sausker
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 AU2001269787A priority Critical patent/AU2001269787A1/en
Publication of WO2001094365A2 publication Critical patent/WO2001094365A2/fr
Publication of WO2001094365A3 publication Critical patent/WO2001094365A3/fr
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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
    • 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
    • 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)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

L'invention porte sur de nouveaux variants génétiques du gène Phosphorylase Kinase, Gamma 2 (Testis) (PHKG2). L'invention porte également sur divers génotypes, haplotypes et paires d'haplotype du gène PHKG2 qui existent dans la population américaine en général, ainsi que sur des compositions et des procédés destinés à haplotyper et/ou génotyper le gène PHKG2 chez un individu, et sur des polynucléotides définis par les haplotypes précités.
PCT/US2001/018814 2000-06-09 2001-06-11 Haplotypes du gene phkg2 Ceased WO2001094365A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001269787A AU2001269787A1 (en) 2000-06-09 2001-07-11 Haplotypes of the phkg2 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US21056800P 2000-06-09 2000-06-09
US60/210,568 2000-06-09

Publications (2)

Publication Number Publication Date
WO2001094365A2 WO2001094365A2 (fr) 2001-12-13
WO2001094365A3 true WO2001094365A3 (fr) 2002-03-28

Family

ID=22783414

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/018814 Ceased WO2001094365A2 (fr) 2000-06-09 2001-06-11 Haplotypes du gene phkg2

Country Status (2)

Country Link
AU (1) AU2001269787A1 (fr)
WO (1) WO2001094365A2 (fr)

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5521301A (en) * 1988-12-12 1996-05-28 City Of Hope Genotyping of multiple allele systems
US5851762A (en) * 1990-07-11 1998-12-22 Gene Type Ag Genomic mapping method by direct haplotyping using intron sequence analysis

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5521301A (en) * 1988-12-12 1996-05-28 City Of Hope Genotyping of multiple allele systems
US5851762A (en) * 1990-07-11 1998-12-22 Gene Type Ag Genomic mapping method by direct haplotyping using intron sequence analysis

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
BEURDEN ET AL.: "Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)", BIOCHEM. BIOPHYS. RES. COMM., vol. 236, 1997, pages 544 - 548, XP002905748 *
BURWINKEL ET AL.: "Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis", HUMAN MOLECULAR GENETICS, vol. 7, no. 1, 1998, pages 149 - 154, XP002905749 *

Also Published As

Publication number Publication date
WO2001094365A2 (fr) 2001-12-13
AU2001269787A1 (en) 2001-12-17

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