WO2002018647A1 - Haplotypes du gene gng7 - Google Patents

Haplotypes du gene gng7 Download PDF

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Publication number
WO2002018647A1
WO2002018647A1 PCT/US2001/026279 US0126279W WO0218647A1 WO 2002018647 A1 WO2002018647 A1 WO 2002018647A1 US 0126279 W US0126279 W US 0126279W WO 0218647 A1 WO0218647 A1 WO 0218647A1
Authority
WO
WIPO (PCT)
Prior art keywords
gng7
haplotype
gene
seq
individual
Prior art date
Application number
PCT/US2001/026279
Other languages
English (en)
Inventor
Kevin Finkel
Stefanie E. Kliem
Beena Koshy
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 AU2001286644A priority Critical patent/AU2001286644A1/en
Publication of WO2002018647A1 publication Critical patent/WO2002018647A1/fr

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    • 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
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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)
    • 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
    • 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
    • C12Q2600/172Haplotypes
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations

Definitions

  • a particularly preferred polymorphic variant is an isogene of the GNG7 gene.
  • a GNG7 isogene of the invention comprises guanine or thymine at PSI, adenine or guanine at PS2 and guanine or adenine at PS3.
  • the invention also provides a collection of GNG7 isogenes, referred to herein as a GNG7 genome anthology.
  • Polynucleotides complementary to these GNG7 genomic DNA variants are also provided by the invention. It is believed that polymorphic variants of the GNG7 gene will be useful in studying the expression and function of GNG7, and in expressing GNG7 protein for use in screening for candidate drugs to treat diseases related to GNG7 activity.
  • Full-genotype The unphased 5' to 3 ' sequence of nucleotide pairs found at all polymorphic sites examined herein in a locus on a pair of homologous chromosomes in a single individual.
  • Sub-genotype The unphased 5 ' to 3 ' sequence of nucleotides seen at a subset of the polymorphic sites examined herein in a locus on a pair of homologous chromosomes in a single individual.
  • Polymorphism Database A collection of polymo ⁇ hism data arranged in a systematic or methodical way and capable of being individually accessed by electronic or other means.
  • an oligonucleotide primer may have a non-complementary fragment at its 5 ' end, with the remainder of the primer being complementary to the target region.
  • non-complementary nucleotides may be interspersed into the probe or primer as long as the resulting probe or primer is still capable of specifically hybridizing to the target region.
  • the frequencies of the genotype(s), haplotype(s), or haplotype pair(s) of interest in the reference and trait populations are compared.
  • the frequencies of all genotypes, haplotypes, and/or haplotype pairs observed in the populations are compared. If a particular GNG7 genotype, haplotype, or haplotype pair is more frequent in the trait population than in the reference population at a statistically significant amount, then the trait is predicted to be associated with that GNG7 genotype, haplotype or haplotype pair.
  • Correlations may also be analyzed using analysis of variation (ANOVA) techniques to determine how much of the variation in the clinical data is explained by different subsets of the polymo ⁇ hic sites in the GNG7 gene.
  • ANOVA analysis of variation
  • ANOVA is used to test hypotheses about whether a response variable is caused by or correlated with one or more traits or variables that can be measured (Fisher and vanBelle, supra, Ch. 10).
  • Fragment 1 3296-3314 complement of 3844-3823

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  • 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)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Zoology (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

L'invention concerne des nouvelles variantes génétiques du gène GNG7 (protéine de liaison nucléotidique à la guanine (protéine G), gamma 7). Elle concerne également plusieurs génotypes, haplotypes et paires d'haplotypes existant dans la population générale des Etats-Unis pour le gène GNG7. L'invention se rapporte en outre à des compositions et à des méthodes destinées à soumettre le gène GNG7 à un haplotypage et/ou à un génotypage chez un individu. Elle porte enfin sur des polynucléotides définis par les haplotypes susmentionnés.
PCT/US2001/026279 2000-08-25 2001-08-23 Haplotypes du gene gng7 WO2002018647A1 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001286644A AU2001286644A1 (en) 2000-08-25 2001-08-23 Haplotypes of the gng7 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US22823400P 2000-08-25 2000-08-25
US60/228,234 2000-08-25

Publications (1)

Publication Number Publication Date
WO2002018647A1 true WO2002018647A1 (fr) 2002-03-07

Family

ID=22856342

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/026279 WO2002018647A1 (fr) 2000-08-25 2001-08-23 Haplotypes du gene gng7

Country Status (2)

Country Link
AU (1) AU2001286644A1 (fr)
WO (1) WO2002018647A1 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2004006934A2 (fr) * 2002-07-10 2004-01-22 Hans Robert Kalbitzer Procede et composes pour modifier la structure tridimensionnelle de proteines gnb

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
DATABASE GENCORE [online] NATIONAL LIBRARY OF MEDICINE (BETHESDA, MD, USA); LAMERDIN ET AL.: "Sequence analysis of a 3.5 Mb contig in human 19p13.3 containing a serine protease gene cluster", XP002907034, accession no. STN Database accession no. AC005512 *
HUROWITZ ET AL.: "Genomic characterization of the human heterotrimeric G protein alpha, beta and gamma subunit genes", DNA RES., vol. 7, 2000, pages 111 - 120, XP002907035 *
WATSON ET AL.: "G-protein gamma-7 subunit is selectively expressed in medium-sized neurons and dendrites of the rat neostriatum", JOURNAL OF NEUROSCIENCE RES., vol. 39, 1994, pages 108 - 116, XP002907625 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2004006934A2 (fr) * 2002-07-10 2004-01-22 Hans Robert Kalbitzer Procede et composes pour modifier la structure tridimensionnelle de proteines gnb
WO2004006934A3 (fr) * 2002-07-10 2004-04-01 Hans Robert Kalbitzer Procede et composes pour modifier la structure tridimensionnelle de proteines gnb

Also Published As

Publication number Publication date
AU2001286644A1 (en) 2002-03-13

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