HRP20110778T1 - Postupci otkrivanja alzheimerove bolesti - Google Patents
Postupci otkrivanja alzheimerove bolesti Download PDFInfo
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- HRP20110778T1 HRP20110778T1 HR20110778T HRP20110778T HRP20110778T1 HR P20110778 T1 HRP20110778 T1 HR P20110778T1 HR 20110778 T HR20110778 T HR 20110778T HR P20110778 T HRP20110778 T HR P20110778T HR P20110778 T1 HRP20110778 T1 HR P20110778T1
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- Prior art keywords
- cell lines
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- 238000000034 method Methods 0.000 title claims abstract 17
- 208000024827 Alzheimer disease Diseases 0.000 title claims abstract 8
- 238000003745 diagnosis Methods 0.000 title 1
- 238000004393 prognosis Methods 0.000 title 1
- 101150033922 ABCA2 gene Proteins 0.000 claims abstract 6
- 210000004027 cell Anatomy 0.000 claims 9
- 241001465754 Metazoa Species 0.000 claims 8
- 210000000130 stem cell Anatomy 0.000 claims 8
- 230000009261 transgenic effect Effects 0.000 claims 7
- 108700028369 Alleles Proteins 0.000 claims 6
- 239000012472 biological sample Substances 0.000 claims 4
- 238000003752 polymerase chain reaction Methods 0.000 claims 4
- 238000007894 restriction fragment length polymorphism technique Methods 0.000 claims 3
- 101710163270 Nuclease Proteins 0.000 claims 2
- 230000003321 amplification Effects 0.000 claims 2
- 230000000694 effects Effects 0.000 claims 2
- 239000012634 fragment Substances 0.000 claims 2
- 238000009396 hybridization Methods 0.000 claims 2
- 238000003199 nucleic acid amplification method Methods 0.000 claims 2
- 102100033618 ATP-binding cassette sub-family A member 2 Human genes 0.000 claims 1
- 102000004594 DNA Polymerase I Human genes 0.000 claims 1
- 108010017826 DNA Polymerase I Proteins 0.000 claims 1
- 238000007400 DNA extraction Methods 0.000 claims 1
- 101100161485 Homo sapiens ABCA2 gene Proteins 0.000 claims 1
- 101000801645 Homo sapiens ATP-binding cassette sub-family A member 2 Proteins 0.000 claims 1
- 238000002105 Southern blotting Methods 0.000 claims 1
- 239000011543 agarose gel Substances 0.000 claims 1
- 238000004458 analytical method Methods 0.000 claims 1
- 239000008280 blood Substances 0.000 claims 1
- 210000004369 blood Anatomy 0.000 claims 1
- 239000003795 chemical substances by application Substances 0.000 claims 1
- 150000001875 compounds Chemical class 0.000 claims 1
- 238000001514 detection method Methods 0.000 claims 1
- 230000029087 digestion Effects 0.000 claims 1
- 231100000640 hair analysis Toxicity 0.000 claims 1
- 239000012528 membrane Substances 0.000 claims 1
- 238000013508 migration Methods 0.000 claims 1
- 230000005012 migration Effects 0.000 claims 1
- 239000002773 nucleotide Substances 0.000 claims 1
- 125000003729 nucleotide group Chemical group 0.000 claims 1
- 108091008146 restriction endonucleases Proteins 0.000 claims 1
- 210000000582 semen Anatomy 0.000 claims 1
- 238000012163 sequencing technique Methods 0.000 claims 1
- 230000001568 sexual effect Effects 0.000 claims 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
- C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
-
- 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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- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Biomedical Technology (AREA)
- Wood Science & Technology (AREA)
- Neurosurgery (AREA)
- Analytical Chemistry (AREA)
- Immunology (AREA)
- Neurology (AREA)
- Zoology (AREA)
- General Health & Medical Sciences (AREA)
- Public Health (AREA)
- Biotechnology (AREA)
- Pharmacology & Pharmacy (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Veterinary Medicine (AREA)
- Cell Biology (AREA)
- Medicinal Chemistry (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Physics & Mathematics (AREA)
- Biophysics (AREA)
- Animal Behavior & Ethology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Psychiatry (AREA)
- Hospice & Palliative Care (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
Abstract
Postupak dijagnosticiranja ili prognosticiranja Alzheimerove bolesti kod subjekta, naznačen time što se sastoji u najmanje jednom koraku otkrivanja prisutnosti polimorfije rs908832 gena ABCA2. Patent sadrži još 16 patentnih zahtjeva.
Claims (17)
1. Postupak dijagnosticiranja ili prognosticiranja Alzheimerove bolesti kod subjekta, naznačen time što se sastoji u najmanje jednom koraku otkrivanja prisutnosti polimorfije rs908832 gena ABCA2.
2. Postupak u skladu s patentnim zahtjevom 1, naznačen time što se navedene korake otkrivanja provodi uz pomoć bioloških uzoraka.
3. Postupak dijagnosticiranja ili prognosticiranja Alzheimerove bolesti kod subjekta u skladu s patentnim zahtjevom 2, naznačen time što su navedeni biološki uzorci uzorci koji sadrže stanice s jezgrom.
4. Postupak dijagnosticiranja ili prognosticiranja Alzheimerove bolesti kod subjekta u skladu s patentnim zahtjevom 2 ili 3, naznačen time što su navedeni biološki uzorci uzorci krvi, uzorci sjemena ili uzorci dlake.
5. Postupak dijagnosticiranja ili prognosticiranja Alzheimerove bolesti kod subjekta u skladu s patentnim zahtjevom 1, naznačen time što navedene korake otkrivanja prisutnosti ili odsutnosti DNA koje nose navedenu polimorfiju se provodi uz pomoć tehnika lančane reakcije polimeraze (PCR), hibridizacije, bugačenja prema Southernu na membrani, digestije nukleazama, polimorfije duljine restrikcijskih fragmenata (RFLP) ili izravnog sekvenciranja, ili njihovom kombinacijom.
6. Postupak u skladu s patentnim zahtjevom 5, naznačen time što se sastoji u:
a. ekstrakciji DNA navedenog subjekta iz biološkog uzorka,
b. amplifikaciji navedene izolirane DNA uz pomoć početnica koje mogu amplificirati slijed koji odgovara polimorfiji rs908832 gena ABCA2,
c. određivanju prisutnosti najmanje jednog od alela polimorfije rs908832 gena ABCA2 u amplificiranoj DNA.
7. Postupak u skladu s patentnim zahtjevom 6, naznačen time što se korak amplifikacije b) sastoji u lančanoj reakciji polimeraze (PCR).
8. Postupak u skladu s patentnim zahtjevom 6, naznačen time što se amplificiranu DNA koja nosi manjinski alel "T" polimorfije rs908832 razlikuje od amplificirane DNA koja ne nosi taj alel tehnikom koja uključuje aktivnost 5' nukleaze DNA polimeraze I (TaqMan).
9. Postupak u skladu s patentnim zahtjevom 6, naznačen time što se amplificiranu DNA koja nosi manjinski alel "T" polimorfije rs908832 razlikuje od amplificirane DNA koja ne nosi tu polimorfiju analizom polimorfije restrikcijskih fragmenata (RFLP).
10. Postupak u skladu s patentnim zahtjevom 9, naznačen time što su restrikcijski fragmenti dobiveni digestijom amplificirane DNA restrikcijskim enzimom prije migracije u agarozni gel, bugačenja prema Southernu i hibridizacije.
11. Postupak u skladu s patentnim zahtjevom 1, naznačen time što se otkrivanje prisutnosti polimorfije rs908832 gena ABCA2 sastoji u određivanju nukleotida na položaju 2185 u transkriptu koji kodira protein ABCA2, gdje navedeni transkript sadrži slijed SEQ ID No.5.
12. Transgene životinje koje nisu ljudi, linije matičnih stanica i linije stanica koje se razlikuju od tih linija matičnih stanica, naznačene time što im je u genom ubačen najmanje jedan slijed egzogene genomske DNA koja nosi manjinski alel "T" polimorfije rs908832 gena ABCA2.
13. Transgene životinje u skladu s patentnim zahtjevom 12, naznačene time što su odabrane između sisavaca koji nisu ljudi.
14. Postupak dobivanja transgenih životinja, linija matičnih stanica i linija stanica koje se razlikuju od tih linija matičnih stanica u skladu s bilo kojim od patentnih zahtjeva 12 i 13, naznačen time što se sastoji u generiranju transgenih životinja, s izuzetkom postupaka koji se sastoje u ili uključuju spolno križanje cijelog genoma tih životinja, linija matičnih stanica i linija stanica koje se razlikuju od tih linija matičnih stanica, koje sadrže manjinski alel polimorfije rs908832 ljudskog gena ABCA2.
15. Upotreba transgenih životinja, linija matičnih stanica i linija stanica koje se razlikuju od tih linija matičnih stanica, u skladu s bilo kojim od patentnih zahtjeva 12 i 13, naznačena time što su transgene životinje i stanične linije namijenjene ispitivanju aktivnosti sredstava ili postupaka namijenjenih sprječavanju i/ili liječenju Alzheimerove bolesti.
16. Stanica, naznačena time što je ekstrahirana iz transgenih životinja, kao što je opisano u bilo kojem od patentnih zahtjeva 12 i 13.
17. Upotreba stanice u skladu s patentnim zahtjevom 16, naznačena time što su stanice namijenjene ispitivanju spojeva namijenjenih liječenju Alzheimerove bolesti.
POPIS SLIJEDOVA
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Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| FR0307501A FR2856409B1 (fr) | 2003-06-20 | 2003-06-20 | Methodes de detection de la maladie d'alzheimer |
| PCT/FR2004/001509 WO2004113568A2 (fr) | 2003-06-20 | 2004-06-17 | Méthodes de détection de la maladie d'alzheimer |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HRP20110778T1 true HRP20110778T1 (hr) | 2011-11-30 |
Family
ID=33484616
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HR20110778T HRP20110778T1 (hr) | 2003-06-20 | 2011-10-26 | Postupci otkrivanja alzheimerove bolesti |
Country Status (25)
| Country | Link |
|---|---|
| EP (1) | EP1639139B1 (hr) |
| JP (1) | JP4691491B2 (hr) |
| KR (1) | KR101170651B1 (hr) |
| CN (1) | CN1809645B (hr) |
| AR (1) | AR044492A1 (hr) |
| AT (1) | ATE518005T1 (hr) |
| AU (1) | AU2004249919B2 (hr) |
| BR (1) | BRPI0411658A (hr) |
| CA (1) | CA2529633C (hr) |
| CY (1) | CY1111970T1 (hr) |
| DK (1) | DK1639139T3 (hr) |
| ES (1) | ES2370491T3 (hr) |
| FR (1) | FR2856409B1 (hr) |
| HK (1) | HK1090392A1 (hr) |
| HR (1) | HRP20110778T1 (hr) |
| IL (1) | IL172690A0 (hr) |
| MX (1) | MXPA05012800A (hr) |
| NO (1) | NO20060257L (hr) |
| PL (1) | PL1639139T3 (hr) |
| PT (1) | PT1639139E (hr) |
| RU (2) | RU2380423C2 (hr) |
| SI (1) | SI1639139T1 (hr) |
| TW (1) | TWI352738B (hr) |
| WO (1) | WO2004113568A2 (hr) |
| ZA (1) | ZA200509945B (hr) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN103013989A (zh) * | 2011-09-23 | 2013-04-03 | 深圳北京大学香港科技大学医学中心 | 与老年痴呆症发病相关的细胞周期依赖性激酶5的单核苷酸多态性位点 |
| GB201212084D0 (en) * | 2012-07-06 | 2012-08-22 | Randox Lab Ltd | Tropomyosin isoforms related to alzheimers disease and mild cognitive impairment |
| CN102768189B (zh) * | 2012-07-30 | 2014-11-19 | 黄石 | 一种药物筛选方法 |
| CN104313144B (zh) * | 2014-10-16 | 2017-02-01 | 卫生部北京医院 | 一种检测阿尔茨海默病易感性的试剂 |
Family Cites Families (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5853995A (en) * | 1997-01-07 | 1998-12-29 | Research Development Foundation | Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6 |
| CA2383063A1 (en) * | 1999-08-20 | 2001-03-01 | Catriona Wilson | Human abc2 transporter and uses thereof |
| AU7699501A (en) * | 2000-07-20 | 2002-02-05 | Cephalon Inc | Gene-targeted non-human mammal with human fad presenilin mutation and generational offspring |
| JP2004147502A (ja) * | 2000-07-26 | 2004-05-27 | Banyu Pharmaceut Co Ltd | ヒト及びラットａｂｃａ２遺伝子 |
| WO2002064781A2 (en) * | 2001-02-09 | 2002-08-22 | Active Pass Pharmaceuticals, Inc. | Regulation of amyloid precursor protein expression by modification of abc transporter expression or activity |
| WO2002101392A2 (en) * | 2001-06-08 | 2002-12-19 | Xenon Genetics, Inc. | Methods for treating disorders of the nervous and reproductive systems |
-
2003
- 2003-06-20 FR FR0307501A patent/FR2856409B1/fr not_active Expired - Fee Related
-
2004
- 2004-06-09 AR ARP040101994A patent/AR044492A1/es active IP Right Grant
- 2004-06-17 JP JP2006516300A patent/JP4691491B2/ja not_active Expired - Fee Related
- 2004-06-17 MX MXPA05012800A patent/MXPA05012800A/es active IP Right Grant
- 2004-06-17 RU RU2006101561/13A patent/RU2380423C2/ru not_active IP Right Cessation
- 2004-06-17 WO PCT/FR2004/001509 patent/WO2004113568A2/fr active Application Filing
- 2004-06-17 CN CN2004800172750A patent/CN1809645B/zh not_active Expired - Fee Related
- 2004-06-17 ES ES04767370T patent/ES2370491T3/es not_active Expired - Lifetime
- 2004-06-17 DK DK04767370.2T patent/DK1639139T3/da active
- 2004-06-17 CA CA2529633A patent/CA2529633C/fr not_active Expired - Fee Related
- 2004-06-17 SI SI200431759T patent/SI1639139T1/sl unknown
- 2004-06-17 PT PT04767370T patent/PT1639139E/pt unknown
- 2004-06-17 AU AU2004249919A patent/AU2004249919B2/en not_active Ceased
- 2004-06-17 AT AT04767370T patent/ATE518005T1/de active
- 2004-06-17 EP EP04767370A patent/EP1639139B1/fr not_active Expired - Lifetime
- 2004-06-17 PL PL04767370T patent/PL1639139T3/pl unknown
- 2004-06-17 RU RU2009104533/10A patent/RU2483108C2/ru not_active IP Right Cessation
- 2004-06-17 BR BRPI0411658-5A patent/BRPI0411658A/pt not_active IP Right Cessation
- 2004-06-17 KR KR1020057024490A patent/KR101170651B1/ko not_active IP Right Cessation
- 2004-06-18 TW TW093117572A patent/TWI352738B/zh not_active IP Right Cessation
-
2005
- 2005-12-07 ZA ZA200509945A patent/ZA200509945B/en unknown
- 2005-12-19 IL IL172690A patent/IL172690A0/en not_active IP Right Cessation
-
2006
- 2006-01-18 NO NO20060257A patent/NO20060257L/no not_active Application Discontinuation
- 2006-10-10 HK HK06111103.5A patent/HK1090392A1/xx not_active IP Right Cessation
-
2011
- 2011-10-26 HR HR20110778T patent/HRP20110778T1/hr unknown
- 2011-10-27 CY CY20111101024T patent/CY1111970T1/el unknown
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