IT1319221B1 - Mutazioni nel gene della ferroportina 1 associata ad emocromatosiereditaria. - Google Patents

Mutazioni nel gene della ferroportina 1 associata ad emocromatosiereditaria.

Info

Publication number
IT1319221B1
IT1319221B1 IT2000MI002240A ITMI20002240A IT1319221B1 IT 1319221 B1 IT1319221 B1 IT 1319221B1 IT 2000MI002240 A IT2000MI002240 A IT 2000MI002240A IT MI20002240 A ITMI20002240 A IT MI20002240A IT 1319221 B1 IT1319221 B1 IT 1319221B1
Authority
IT
Italy
Prior art keywords
hemocromatosiereditaria
ferroportina
mutations
gene
Prior art date
Application number
IT2000MI002240A
Other languages
English (en)
Inventor
Antonello Pietrangelo
Original Assignee
Antonello Pietrangelo
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
Priority to IT2000MI002240A priority Critical patent/IT1319221B1/it
Application filed by Antonello Pietrangelo filed Critical Antonello Pietrangelo
Priority to CA2425669A priority patent/CA2425669C/en
Priority to PCT/EP2001/012018 priority patent/WO2002033119A2/en
Priority to AU2478102A priority patent/AU2478102A/xx
Priority to JP2002536087A priority patent/JP2004516018A/ja
Priority to DE60141479T priority patent/DE60141479D1/de
Priority to EP01987815A priority patent/EP1352092B1/en
Priority to AU2002224781A priority patent/AU2002224781B2/en
Priority to US10/399,488 priority patent/US7317097B2/en
Publication of ITMI20002240A1 publication Critical patent/ITMI20002240A1/it
Application granted granted Critical
Publication of IT1319221B1 publication Critical patent/IT1319221B1/it
Priority to US11/942,653 priority patent/US7608401B2/en

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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • A61P3/02—Nutrients, e.g. vitamins, minerals
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • 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
    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
    • G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5091—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing the pathological state of an organism
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • 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

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Pathology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Food Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Cell Biology (AREA)
  • General Physics & Mathematics (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Tropical Medicine & Parasitology (AREA)
  • Toxicology (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Animal Behavior & Ethology (AREA)
  • General Chemical & Material Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Physiology (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Veterinary Medicine (AREA)
  • Obesity (AREA)
IT2000MI002240A 2000-10-17 2000-10-17 Mutazioni nel gene della ferroportina 1 associata ad emocromatosiereditaria. IT1319221B1 (it)

Priority Applications (10)

Application Number Priority Date Filing Date Title
IT2000MI002240A IT1319221B1 (it) 2000-10-17 2000-10-17 Mutazioni nel gene della ferroportina 1 associata ad emocromatosiereditaria.
PCT/EP2001/012018 WO2002033119A2 (en) 2000-10-17 2001-10-17 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
AU2478102A AU2478102A (en) 2000-10-17 2001-10-17 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
JP2002536087A JP2004516018A (ja) 2000-10-17 2001-10-17 遺伝性ヘモクロマトーシスに関連するフェロポルチン１遺伝子における突然変異
CA2425669A CA2425669C (en) 2000-10-17 2001-10-17 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
DE60141479T DE60141479D1 (de) 2000-10-17 2001-10-17 Mutationen im mit ererbter hämochromatose assoziierten gen für ferroportin 1
EP01987815A EP1352092B1 (en) 2000-10-17 2001-10-17 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
AU2002224781A AU2002224781B2 (en) 2000-10-17 2001-10-17 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
US10/399,488 US7317097B2 (en) 2000-10-17 2001-10-17 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
US11/942,653 US7608401B2 (en) 2000-10-17 2007-11-19 Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
IT2000MI002240A IT1319221B1 (it) 2000-10-17 2000-10-17 Mutazioni nel gene della ferroportina 1 associata ad emocromatosiereditaria.

Publications (2)

Publication Number Publication Date
ITMI20002240A1 ITMI20002240A1 (it) 2002-04-17
IT1319221B1 true IT1319221B1 (it) 2003-09-26

Family

ID=11445978

Family Applications (1)

Application Number Title Priority Date Filing Date
IT2000MI002240A IT1319221B1 (it) 2000-10-17 2000-10-17 Mutazioni nel gene della ferroportina 1 associata ad emocromatosiereditaria.

Country Status (8)

Country Link
US (2) US7317097B2 (it)
EP (1) EP1352092B1 (it)
JP (1) JP2004516018A (it)
AU (2) AU2478102A (it)
CA (1) CA2425669C (it)
DE (1) DE60141479D1 (it)
IT (1) IT1319221B1 (it)
WO (1) WO2002033119A2 (it)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AUPR799201A0 (en) * 2001-10-01 2001-10-25 Council Of The Queensland Institute Of Medical Research, The Ferroportin-1 mutant
ITMI20031156A1 (it) 2003-06-09 2004-12-10 Antonello Pietrangelo Mutazioni nel gene slc40a1 associate ad alterata omeostasi del ferro.
PA8849601A1 (es) * 2008-12-05 2010-07-27 Lilly Co Eli Anticuerpos monoclonales anti-ferroportina 1 y usos de los mismos

Also Published As

Publication number Publication date
WO2002033119A2 (en) 2002-04-25
US20040029147A1 (en) 2004-02-12
DE60141479D1 (de) 2010-04-15
US7317097B2 (en) 2008-01-08
CA2425669A1 (en) 2002-04-25
JP2004516018A (ja) 2004-06-03
CA2425669C (en) 2013-09-24
US7608401B2 (en) 2009-10-27
EP1352092A2 (en) 2003-10-15
EP1352092B1 (en) 2010-03-03
WO2002033119A9 (en) 2002-09-19
ITMI20002240A1 (it) 2002-04-17
WO2002033119A3 (en) 2003-08-07
US20080145855A1 (en) 2008-06-19
AU2478102A (en) 2002-04-29
AU2002224781B2 (en) 2007-05-24

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