CA2403696A1 - Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale - Google Patents
Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale Download PDFInfo
- Publication number
- CA2403696A1 CA2403696A1 CA002403696A CA2403696A CA2403696A1 CA 2403696 A1 CA2403696 A1 CA 2403696A1 CA 002403696 A CA002403696 A CA 002403696A CA 2403696 A CA2403696 A CA 2403696A CA 2403696 A1 CA2403696 A1 CA 2403696A1
- Authority
- CA
- Canada
- Prior art keywords
- familial dysautonomia
- nucleic acid
- gene
- markers
- 43b1gagt
- 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.)
- Abandoned
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
- C12Q2600/172—Haplotypes
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
La dysautonomie familiale (FD) est un trouble autosomique récessif caractérisé par un arrêt du développement des systèmes nerveux sensoriel et végétatif, très présent dans l'ascendance juive ashkénaze. Le gène de la maladie de la dysautonomie familiale (DYS) a précédemment été reconnu comme le segment 11cM du chromosome 9q31-33 flanqué de D9s53 et de D9S105. L'utilisation de nouveaux loci polymorphes permet de réduire l'emplacement du gène à moins de 0,5 cM entre les marqueurs 43B1GAGT et 157A3. Deux marqueurs situés dans cet intervalle, 164D1 et D9S1677, ne présentent aucune recombinaison avec la maladie. L'analyse de l'haplotype confirme cette région candidate. L'identification de ces marqueurs du gène de la maladie de la dysautonomie familiale permet d'obtenir un test génétique précis pour identifier les familles et les porteurs de la dysautonomie familiale.
Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
PCT/US2000/006851 WO2001068917A1 (fr) | 2000-03-15 | 2000-03-15 | Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale |
Publications (1)
Publication Number | Publication Date |
---|---|
CA2403696A1 true CA2403696A1 (fr) | 2001-09-20 |
Family
ID=21741155
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CA002403696A Abandoned CA2403696A1 (fr) | 2000-03-15 | 2000-03-15 | Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale |
Country Status (5)
Country | Link |
---|---|
EP (1) | EP1274860A4 (fr) |
AU (1) | AU2000237492A1 (fr) |
CA (1) | CA2403696A1 (fr) |
IL (1) | IL151769A0 (fr) |
WO (1) | WO2001068917A1 (fr) |
Families Citing this family (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2002059381A2 (fr) | 2001-01-06 | 2002-08-01 | The General Hospital Corporation | Gene d'identification d'individus atteints de dysautonomie familiale |
Family Cites Families (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO1993024657A2 (fr) * | 1992-05-29 | 1993-12-09 | The General Hospital Corporation | Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale |
-
2000
- 2000-03-15 AU AU2000237492A patent/AU2000237492A1/en not_active Abandoned
- 2000-03-15 IL IL15176900A patent/IL151769A0/xx unknown
- 2000-03-15 EP EP00916382A patent/EP1274860A4/fr not_active Ceased
- 2000-03-15 WO PCT/US2000/006851 patent/WO2001068917A1/fr active Application Filing
- 2000-03-15 CA CA002403696A patent/CA2403696A1/fr not_active Abandoned
Also Published As
Publication number | Publication date |
---|---|
WO2001068917A1 (fr) | 2001-09-20 |
IL151769A0 (en) | 2003-04-10 |
AU2000237492A1 (en) | 2001-09-24 |
EP1274860A4 (fr) | 2006-02-08 |
EP1274860A1 (fr) | 2003-01-15 |
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Legal Events
Date | Code | Title | Description |
---|---|---|---|
FZDC | Discontinued application reinstated | ||
EEER | Examination request | ||
FZDE | Discontinued |