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 PDFInfo
- 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
Links
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
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.
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 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)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US10724092B2 (en) | 2014-06-10 | 2020-07-28 | 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 |
JP6654760B2 (en) * | 2014-07-24 | 2020-02-26 | マサチューセッツ・アイ・アンド・イア・インファーマリー | 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 and kit for detecting familial retinitis pigmentosa disease-causing gene mutation and application |
-
2000
- 2000-04-10 GB GBGB0008801.3A patent/GB0008801D0/en not_active Ceased
-
2001
- 2001-04-10 WO PCT/GB2001/001622 patent/WO2001077380A2/en active Application Filing
- 2001-04-10 AU AU2001244421A patent/AU2001244421A1/en not_active Abandoned
Non-Patent Citations (9)
Title |
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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 |
---|---|
WO2001077380A2 (en) | 2001-10-18 |
AU2001244421A1 (en) | 2001-10-23 |
GB0008801D0 (en) | 2000-05-31 |
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