WO2005078132A3 - OLIGONUCLEOTIDE PROBES FOR DIAGNOSIS AND IDENTIFICATION OF THE DIFFERENT FORMS OF β-THALASSEMIA, METHODS AND DIAGNOSTIC KIT THEREOF - Google Patents

OLIGONUCLEOTIDE PROBES FOR DIAGNOSIS AND IDENTIFICATION OF THE DIFFERENT FORMS OF β-THALASSEMIA, METHODS AND DIAGNOSTIC KIT THEREOF Download PDF

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Publication number
WO2005078132A3
WO2005078132A3 PCT/IT2005/000066 IT2005000066W WO2005078132A3 WO 2005078132 A3 WO2005078132 A3 WO 2005078132A3 IT 2005000066 W IT2005000066 W IT 2005000066W WO 2005078132 A3 WO2005078132 A3 WO 2005078132A3
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WO
WIPO (PCT)
Prior art keywords
thalassemia
diagnosis
identification
methods
different forms
Prior art date
Application number
PCT/IT2005/000066
Other languages
French (fr)
Other versions
WO2005078132A2 (en
Inventor
Aurelio Maggio
Antonino Giambona
Original Assignee
Biochemical Systems Internaton
Aurelio Maggio
Antonino Giambona
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.)
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Publication date
Application filed by Biochemical Systems Internaton, Aurelio Maggio, Antonino Giambona filed Critical Biochemical Systems Internaton
Publication of WO2005078132A2 publication Critical patent/WO2005078132A2/en
Publication of WO2005078132A3 publication Critical patent/WO2005078132A3/en

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    • 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

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

Abstract

The invention relates to oligonucleotidic probes for the diagnosis and the identification of gene mutations associated with β-thalassemia, methods and kits thereof.
PCT/IT2005/000066 2004-02-13 2005-02-11 OLIGONUCLEOTIDE PROBES FOR DIAGNOSIS AND IDENTIFICATION OF THE DIFFERENT FORMS OF β-THALASSEMIA, METHODS AND DIAGNOSTIC KIT THEREOF WO2005078132A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
ITRM20040081 ITRM20040081A1 (en) 2004-02-13 2004-02-13 OLIGONUCLEOTIDIC PROBES FOR DIAGNOSIS OF THE DIFFERENT FORMS OF BETA-TALASSEMIA AND RELATED METHODS AND DIAGNOSTIC KITS.
ITRM2004A000081 2004-02-13

Publications (2)

Publication Number Publication Date
WO2005078132A2 WO2005078132A2 (en) 2005-08-25
WO2005078132A3 true WO2005078132A3 (en) 2005-10-13

Family

ID=34856963

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IT2005/000066 WO2005078132A2 (en) 2004-02-13 2005-02-11 OLIGONUCLEOTIDE PROBES FOR DIAGNOSIS AND IDENTIFICATION OF THE DIFFERENT FORMS OF β-THALASSEMIA, METHODS AND DIAGNOSTIC KIT THEREOF

Country Status (2)

Country Link
IT (1) ITRM20040081A1 (en)
WO (1) WO2005078132A2 (en)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2694674A1 (en) * 2011-04-06 2014-02-12 Koninklijke Philips N.V. Association markers for beta thalassemia trait
EP2832863A4 (en) * 2012-03-29 2016-02-24 Mitsubishi Rayon Co Microarray for detection of mutations in beta-globin genes and detection method thereof
CN117487909B (en) * 2023-12-29 2024-03-19 广州凯普医药科技有限公司 Primer probe combination for detecting mutation and/or deletion of beta-thalassemia gene and application thereof

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
GIAMBONA ANTONIO ET AL: "The great heterogeneity of thalassemia molecular defects in Sicily", HUMAN GENETICS, vol. 95, no. 5, 1995, pages 526 - 530, XP009052766, ISSN: 0340-6717 *
KANAVAKIS E ET AL: "Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods.", MOLECULAR HUMAN REPRODUCTION. JUN 1997, vol. 3, no. 6, June 1997 (1997-06-01), pages 523 - 528, XP002341971, ISSN: 1360-9947 *
MAGGIO A ET AL: "Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: Application to prenatal diagnosis in Sicily", BLOOD, vol. 81, no. 1, 1993, pages 239 - 242, XP002341913, ISSN: 0006-4971 *
SUTCHARITCHAN P ET AL: "Reverse Dot-blot Detection of the African-American beta-Thalassemia Mutations", BLOOD, vol. 86, no. 4, 1995, pages 1580 - 1585, XP002341914, ISSN: 0006-4971 *
WINICHAGOON P ET AL: "Prenatal diagnosis of beta-thalassaemia by reverse dot-blot hybridization.", PRENATAL DIAGNOSIS. MAY 1999, vol. 19, no. 5, May 1999 (1999-05-01), pages 428 - 435, XP009052767, ISSN: 0197-3851 *

Also Published As

Publication number Publication date
ITRM20040081A1 (en) 2004-05-13
WO2005078132A2 (en) 2005-08-25

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