WO2006003526A8 - Gene humain de predisposition a l'autisme codant otoa et utilisations de celui-ci - Google Patents
Gene humain de predisposition a l'autisme codant otoa et utilisations de celui-ciInfo
- Publication number
- WO2006003526A8 WO2006003526A8 PCT/IB2005/002630 IB2005002630W WO2006003526A8 WO 2006003526 A8 WO2006003526 A8 WO 2006003526A8 IB 2005002630 W IB2005002630 W IB 2005002630W WO 2006003526 A8 WO2006003526 A8 WO 2006003526A8
- Authority
- WO
- WIPO (PCT)
- Prior art keywords
- otoa
- gene
- autism
- diagnosis
- prevention
- Prior art date
Links
- 206010003805 Autism Diseases 0.000 title abstract 4
- 208000020706 Autistic disease Diseases 0.000 title abstract 4
- 108090000623 proteins and genes Proteins 0.000 title abstract 2
- 101100081961 Mus musculus Otoa gene Proteins 0.000 title 1
- 101150081463 OTOA gene Proteins 0.000 abstract 2
- 238000003745 diagnosis Methods 0.000 abstract 2
- 230000035772 mutation Effects 0.000 abstract 2
- 230000002265 prevention Effects 0.000 abstract 2
- 108700028369 Alleles Proteins 0.000 abstract 1
- 208000019901 Anxiety disease Diseases 0.000 abstract 1
- 208000036640 Asperger disease Diseases 0.000 abstract 1
- 201000006062 Asperger syndrome Diseases 0.000 abstract 1
- 208000006096 Attention Deficit Disorder with Hyperactivity Diseases 0.000 abstract 1
- 208000020925 Bipolar disease Diseases 0.000 abstract 1
- 208000030979 Language Development disease Diseases 0.000 abstract 1
- 208000036626 Mental retardation Diseases 0.000 abstract 1
- 208000012902 Nervous system disease Diseases 0.000 abstract 1
- 208000025966 Neurological disease Diseases 0.000 abstract 1
- 208000012202 Pervasive developmental disease Diseases 0.000 abstract 1
- 230000036506 anxiety Effects 0.000 abstract 1
- 208000029560 autism spectrum disease Diseases 0.000 abstract 1
- 210000000349 chromosome Anatomy 0.000 abstract 1
- 238000001514 detection method Methods 0.000 abstract 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 abstract 1
- 239000003814 drug Substances 0.000 abstract 1
- 229940079593 drug Drugs 0.000 abstract 1
- 206010015037 epilepsy Diseases 0.000 abstract 1
- 208000026278 immune system disease Diseases 0.000 abstract 1
- 208000030159 metabolic disease Diseases 0.000 abstract 1
- 208000020016 psychiatric disease Diseases 0.000 abstract 1
- 238000012216 screening Methods 0.000 abstract 1
- 230000001225 therapeutic effect Effects 0.000 abstract 1
Classifications
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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
-
- 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
-
- 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)
- Health & Medical Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Analytical Chemistry (AREA)
- Wood Science & Technology (AREA)
- Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Biotechnology (AREA)
- Molecular Biology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
Abstract
L'invention concerne l'identification d'un gène humain de prédisposition à l'autisme pouvant être utilisé pour le diagnostic, la prévention et le traitement de l'autisme et de troubles associés, ainsi que pour le criblage de médicaments actifs sur le plan thérapeutique. Plus précisément, l'invention concerne le gène OTOA sur le chromosome 16 et certains allèles de celui-ci relatifs à la prédisposition à l'autisme et représentant de nouvelles cibles pour l'intervention thérapeutique. L'invention concerne des mutations spécifiques dans le gène OTOA et des produits d'expression, ainsi que des outils et des kits de diagnostic fondés sur ces mutations. Les produits de l'invention peuvent être utilisés dans le diagnostic de la prédisposition au syndrome d'Asperger, du trouble du développement profond, du retard mental, de l'anxiété, de la dépression, de troubles de l'hyperactivité avec déficit de l'attention, du retard de parole, de l'épilepsie, de trouble du métabolisme, de trouble immunitaire, de la maladie bipolaire et d'autres maladies psychiatriques et neurologiques et dans la détection, la prévention et/ou le traitement de ces maladies.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US58412704P | 2004-07-01 | 2004-07-01 | |
| US60/584,127 | 2004-07-01 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| WO2006003526A2 WO2006003526A2 (fr) | 2006-01-12 |
| WO2006003526A8 true WO2006003526A8 (fr) | 2006-03-02 |
| WO2006003526A3 WO2006003526A3 (fr) | 2006-06-15 |
Family
ID=35429403
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PCT/IB2005/002630 WO2006003526A2 (fr) | 2004-07-01 | 2005-06-30 | Gene humain de predisposition a l'autisme codant otoa et utilisations de celui-ci |
Country Status (1)
| Country | Link |
|---|---|
| WO (1) | WO2006003526A2 (fr) |
-
2005
- 2005-06-30 WO PCT/IB2005/002630 patent/WO2006003526A2/fr active Application Filing
Also Published As
| Publication number | Publication date |
|---|---|
| WO2006003526A2 (fr) | 2006-01-12 |
| WO2006003526A3 (fr) | 2006-06-15 |
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