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WO2002018640A3 - Gene called aladin, involved in allgrove syndrome, its expression product and their applications - Google Patents

Gene called aladin, involved in allgrove syndrome, its expression product and their applications Download PDF

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Publication number
WO2002018640A3
WO2002018640A3 PCT/IB2001/001574 IB0101574W WO0218640A3 WO 2002018640 A3 WO2002018640 A3 WO 2002018640A3 IB 0101574 W IB0101574 W IB 0101574W WO 0218640 A3 WO0218640 A3 WO 0218640A3
Authority
WO
WIPO (PCT)
Prior art keywords
aladin
involved
applications
gene
expression product
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/IB2001/001574
Other languages
French (fr)
Other versions
WO2002018640A2 (en
Inventor
Anastella Tullio-Pelet
Remi Salomon
Smail Hadj-Rabia
Stanislas Lyonnet
Arnold Munnich
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.)
Institut National de la Sante et de la Recherche Medicale INSERM
Original Assignee
Institut National de la Sante et de la Recherche Medicale INSERM
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 Institut National de la Sante et de la Recherche Medicale INSERM filed Critical Institut National de la Sante et de la Recherche Medicale INSERM
Publication of WO2002018640A2 publication Critical patent/WO2002018640A2/en
Anticipated expiration legal-status Critical
Publication of WO2002018640A3 publication Critical patent/WO2002018640A3/en
Ceased legal-status Critical Current

Links

Classifications

    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • 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
    • 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
    • C12Q2600/158—Expression markers

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Urology & Nephrology (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Cell Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Peptides Or Proteins (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

The present invention relates to the identification of a novel gene, called ALADIN involved in Allgrove syndrome, and of the ALADIN gene products, as well as to the diagnostic and therapeutic applications thereof. More particularly, the invention relates to a method of in vitro diagnosis of a disorder of Allgrove syndrome's family, wherein either one or more mutation(s) is detected in the ALADIN gene, or an abnormal expression of ALADIN gene product is detected.
PCT/IB2001/001574 2000-08-30 2001-08-30 Gene called aladin, involved in allgrove syndrome, its expression product and their applications Ceased WO2002018640A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US22900000P 2000-08-30 2000-08-30
US60/229,000 2000-08-30

Publications (2)

Publication Number Publication Date
WO2002018640A2 WO2002018640A2 (en) 2002-03-07
WO2002018640A3 true WO2002018640A3 (en) 2003-03-13

Family

ID=22859416

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2001/001574 Ceased WO2002018640A2 (en) 2000-08-30 2001-08-30 Gene called aladin, involved in allgrove syndrome, its expression product and their applications

Country Status (1)

Country Link
WO (1) WO2002018640A2 (en)

Non-Patent Citations (7)

* Cited by examiner, † Cited by third party
Title
DATABASE EBI [online] EMBL; 5 July 2000 (2000-07-05), MUZNY, D.M. ET AL.: "Homo sapiens chromosome 12 clone RP11-680A11, Working draft sequence, 12 unordered pieces", XP002219648, retrieved from EBI accession no. AC073611 Database accession no. AC073611 *
DATABASE GENBANK [online] NCBI; 21 July 2000 (2000-07-21), LI, Y. ET AL.: "A novel gene expressed in human liver non-tumor-tissue", XP002219646, retrieved from GENBANK accession no. AF226048 Database accession no. AF226048 *
DATABASE GENBANK [online] NCBI; 22 February 2000 (2000-02-22), SUGANO, S. ET AL.: "NEDO human cDNA sequencing project", XP002219647, retrieved from GENBANK accession no. BAA91394 Database accession no. BAA91394 *
DATABASE GENBANK [online] NCBI; 22 February 2000 (2000-02-22), TANIGAMI ET AL.: "NEDO human cDNA sequencing project", XP002219645, retrieved from NCBI accession no. AK000833 Database accession no. AK000833 *
HADJ-RABIA SMAIL ET AL: "Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 8, no. 8, August 2000 (2000-08-01), pages 613 - 620, XP002219643, ISSN: 1018-4813 *
STRATAKIS CONSTANTINE ET AL: "Allgrove (triple-A) syndrome in Puerto Rican kindreds maps to chromosome 12 (12q13).", PEDIATRIC RESEARCH, vol. 41, no. 4 PART 2, 1997, Meeting of the American Pediatric Society and the Society for Pediatric Research;Washington, D.C., USA; May 2-6, 1997, pages 107A, XP008010131, ISSN: 0031-3998 *
WEBER ANGELA ET AL: "Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.", HUMAN MOLECULAR GENETICS, vol. 5, no. 12, 1996, pages 2061 - 2066, XP002219644, ISSN: 0964-6906 *

Also Published As

Publication number Publication date
WO2002018640A2 (en) 2002-03-07

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