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WO2001077126A3 - Haplotypes du gene hsd3b2 - Google Patents

Haplotypes du gene hsd3b2 Download PDF

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Publication number
WO2001077126A3
WO2001077126A3 PCT/US2001/011707 US0111707W WO0177126A3 WO 2001077126 A3 WO2001077126 A3 WO 2001077126A3 US 0111707 W US0111707 W US 0111707W WO 0177126 A3 WO0177126 A3 WO 0177126A3
Authority
WO
WIPO (PCT)
Prior art keywords
hsd3b2
gene
haplotypes
delta
disclosed
Prior art date
Application number
PCT/US2001/011707
Other languages
English (en)
Other versions
WO2001077126A2 (fr
Inventor
Steven C Bentivegna
Anne Chew
Julie Y Choi
Beena Koshy
J Claiborne Stephens
Original Assignee
Genaissance Pharmaceuticals
Steven C Bentivegna
Anne Chew
Julie Y Choi
Beena Koshy
J Claiborne Stephens
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, Steven C Bentivegna, Anne Chew, Julie Y Choi, Beena Koshy, J Claiborne Stephens filed Critical Genaissance Pharmaceuticals
Priority to AU2001251524A priority Critical patent/AU2001251524A1/en
Publication of WO2001077126A2 publication Critical patent/WO2001077126A2/fr
Publication of WO2001077126A3 publication Critical patent/WO2001077126A3/fr

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Classifications

    • 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
    • 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
    • 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

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

Abstract

L'invention concerne de nouveaux polymorphismes mononucléotidiques dans le gène humain Hydroxy-delta-5-stéroïde déshydrogénase, 3 bêta- et stéroïde delta-isomérase (HSD3B2). En outre, elle porte sur divers génotypes, haplotypes et paires d'haplotype pour le gène HSD3B2 qui existent dans la population. Elle traite également de compositions et de procédés d'haplotypage et/ou de génotypage du gène HSD3B2 chez un individu. Elle concerne enfin des polynucléotides contenant au moins un polymorphisme HSD3B2.
PCT/US2001/011707 2000-04-10 2001-04-10 Haplotypes du gene hsd3b2 WO2001077126A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001251524A AU2001251524A1 (en) 2000-04-10 2001-04-10 Haplotypes of the hsd3b2 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US19577500P 2000-04-10 2000-04-10
US60/195,775 2000-04-10

Publications (2)

Publication Number Publication Date
WO2001077126A2 WO2001077126A2 (fr) 2001-10-18
WO2001077126A3 true WO2001077126A3 (fr) 2002-05-16

Family

ID=22722752

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/011707 WO2001077126A2 (fr) 2000-04-10 2001-04-10 Haplotypes du gene hsd3b2

Country Status (2)

Country Link
AU (1) AU2001251524A1 (fr)
WO (1) WO2001077126A2 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7033790B2 (en) 2001-04-03 2006-04-25 Curagen Corporation Proteins and nucleic acids encoding same

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
DATABASE GENBANK [online] October 2000 (2000-10-01), PENG ET AL.: "Homo sapiens cDNA clone ADBBGG07 5', mRNA sequence", XP002906661, accession no. EST Database accession no. AV704637 *
HENDERSON ET AL.: "Hormonal carcinogenesis", CARCINOGENESIS, vol. 21, no. 3, March 2000 (2000-03-01), pages 427 - 433, XP002906660 *
MOISAN ET AL.: "New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes", JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, vol. 84, no. 12, pages 4410 - 4425, XP002944253 *
YAMADA ET AL.: "Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population", HUMAN GENETICS, vol. 106, March 2000 (2000-03-01), pages 293 - 297, XP002947356 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7033790B2 (en) 2001-04-03 2006-04-25 Curagen Corporation Proteins and nucleic acids encoding same

Also Published As

Publication number Publication date
AU2001251524A1 (en) 2001-10-23
WO2001077126A2 (fr) 2001-10-18

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