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WO2001077380A3 - Method for predicting predisposition to a disease associated with mutations in a rpgr gene - Google Patents

Method for predicting predisposition to a disease associated with mutations in a rpgr gene Download PDF

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Publication number
WO2001077380A3
WO2001077380A3 PCT/GB2001/001622 GB0101622W WO0177380A3 WO 2001077380 A3 WO2001077380 A3 WO 2001077380A3 GB 0101622 W GB0101622 W GB 0101622W WO 0177380 A3 WO0177380 A3 WO 0177380A3
Authority
WO
WIPO (PCT)
Prior art keywords
mutations
rpgr gene
disease associated
disease
methods
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/GB2001/001622
Other languages
French (fr)
Other versions
WO2001077380A2 (en
Inventor
Alan Wright
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.)
Medical Research Council
Original Assignee
Medical Research Council
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 Medical Research Council filed Critical Medical Research Council
Priority to AU2001244421A priority Critical patent/AU2001244421A1/en
Publication of WO2001077380A2 publication Critical patent/WO2001077380A2/en
Publication of WO2001077380A3 publication Critical patent/WO2001077380A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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Classifications

    • 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

  • 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

Methods and means are described for diagnosing a disease or a predisposition to disease by genotyping a RPGR gene from an individual and identifying the presence of one or more disease causing mutation(s). Methods of treatment, kits for diagnostic purposes and an isolated RPGR gene including all or some of a range of mutations are also described as well as methods of isolating molecules that modulate a RPGR gene.
PCT/GB2001/001622 2000-04-10 2001-04-10 Method for predicting predisposition to a disease associated with mutations in a rpgr gene Ceased WO2001077380A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001244421A AU2001244421A1 (en) 2000-04-10 2001-04-10 Method for predicting predisposition to a disease associated with mutations in a rpgr gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GB0008801.3 2000-04-10
GBGB0008801.3A GB0008801D0 (en) 2000-04-10 2000-04-10 Sequences

Publications (2)

Publication Number Publication Date
WO2001077380A2 WO2001077380A2 (en) 2001-10-18
WO2001077380A3 true WO2001077380A3 (en) 2002-09-06

Family

ID=9889600

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2001/001622 Ceased WO2001077380A2 (en) 2000-04-10 2001-04-10 Method for predicting predisposition to a disease associated with mutations in a rpgr gene

Country Status (3)

Country Link
AU (1) AU2001244421A1 (en)
GB (1) GB0008801D0 (en)
WO (1) WO2001077380A2 (en)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015190921A2 (en) * 2014-06-10 2015-12-17 Erasmus University Medical Center Rotterdam Methods for characterizing alternatively or aberrantly spliced mrna isoforms
GB201412011D0 (en) * 2014-07-04 2014-08-20 Ucl Business Plc Treatments
US10314924B2 (en) * 2014-07-24 2019-06-11 Massachusetts Eye & Ear Infirmary RPGR gene therapy for retinitis pigmentosa
GB201516066D0 (en) 2015-09-10 2015-10-28 Young & Co Llp D Treatment of retinitis pigmentosa
CN106987637B (en) * 2017-04-25 2020-06-02 郑州大学第一附属医院 Amplification primer, kit and application for detecting familial retinitis pigmentosa pathogenic gene mutation

Non-Patent Citations (9)

* Cited by examiner, † Cited by third party
Title
BURACZYNSKA ET AL.: "Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, 1997, pages 1287 - 1292, XP008002109 *
FUJITA R ET AL.: "Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, 1997, pages 571 - 580, XP008002098 *
KIRSCHNER R ET AL.: "RPGR transcription studies in mouse and human tissues reveal a retina-secific isoform that is disrupted in a patient with X-linked retinitis pigmentosa", HUMAN MOLECULAR GENETICS, vol. 8, no. 8, 1999, pages 1571 - 1578, XP002197599 *
MEARS A J ET AL.: "Remapping of the RP15 locus for X-linked Cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 67, October 2000 (2000-10-01), pages 1000 - 1003, XP001064639 *
MIANO M G ET AL.: "Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 7, September 1999 (1999-09-01), pages 687 - 694, XP008002099 *
MIANO M G ET AL.: "Mutational analysis of the RPGR exon ORF 15 in South European patients with X-linked retinitis pigmentosa", INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 42, no. 4, 15 March 2001 (2001-03-15), pages S641, XP008002120 *
ROEPMAN R ET AL.: "Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)", HUMAN MOLECULAR GENETICS, vol. 5, no. 6, 1996, pages 827 - 833, XP002197598 *
ROEPMAN R ET AL.: "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1", HUMAN MOLECULAR GENETICS, vol. 5, no. 7, 1996, pages 1035 - 1041, XP002197600 *
VERVOORT R ET AL: "MUTATIONAL HOT SPOT WITHIN A NEW RPGR EXON IN X-LINKED RETINITIS PIGMENTOSA", NATURE GENETICS, NATURE AMERICA, NEW YORK, US, vol. 25, no. 4, August 2000 (2000-08-01), pages 462 - 466, XP000940466, ISSN: 1061-4036 *

Also Published As

Publication number Publication date
GB0008801D0 (en) 2000-05-31
AU2001244421A1 (en) 2001-10-23
WO2001077380A2 (en) 2001-10-18

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