HRP20150684T1 - Identifikacija specifiäśnih mjesta nastanka - genetski loci - upalne bolesti crijeva kod djece i postupci njihove uporabe u takvoj dijagnozi te njihovo lijeäśenje - Google Patents
Identifikacija specifiäśnih mjesta nastanka - genetski loci - upalne bolesti crijeva kod djece i postupci njihove uporabe u takvoj dijagnozi te njihovo lijeäśenje Download PDFInfo
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- HRP20150684T1 HRP20150684T1 HRP20150684TT HRP20150684T HRP20150684T1 HR P20150684 T1 HRP20150684 T1 HR P20150684T1 HR P20150684T T HRP20150684T T HR P20150684TT HR P20150684 T HRP20150684 T HR P20150684T HR P20150684 T1 HRP20150684 T1 HR P20150684T1
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- Prior art keywords
- nucleotide polymorphism
- detecting
- polymorphism
- ibd
- single nucleotide
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- 238000000034 method Methods 0.000 title claims 21
- 208000022559 Inflammatory bowel disease Diseases 0.000 title claims 12
- 238000003745 diagnosis Methods 0.000 title 1
- 239000002773 nucleotide Substances 0.000 claims 15
- 125000003729 nucleotide group Chemical group 0.000 claims 15
- 102000040430 polynucleotide Human genes 0.000 claims 13
- 108091033319 polynucleotide Proteins 0.000 claims 13
- 239000002157 polynucleotide Substances 0.000 claims 13
- 108700028369 Alleles Proteins 0.000 claims 4
- 238000001514 detection method Methods 0.000 claims 4
- 238000009396 hybridization Methods 0.000 claims 4
- 101150011022 TNFRSF6B gene Proteins 0.000 claims 3
- 210000004027 cell Anatomy 0.000 claims 3
- 230000000968 intestinal effect Effects 0.000 claims 3
- 230000035790 physiological processes and functions Effects 0.000 claims 3
- 101150006399 psmg1 gene Proteins 0.000 claims 3
- 239000000126 substance Substances 0.000 claims 3
- 238000001574 biopsy Methods 0.000 claims 2
- 238000006243 chemical reaction Methods 0.000 claims 2
- 210000000349 chromosome Anatomy 0.000 claims 2
- 230000007812 deficiency Effects 0.000 claims 2
- 238000005259 measurement Methods 0.000 claims 2
- 102000039446 nucleic acids Human genes 0.000 claims 2
- 108020004707 nucleic acids Proteins 0.000 claims 2
- 150000007523 nucleic acids Chemical class 0.000 claims 2
- 238000012163 sequencing technique Methods 0.000 claims 2
- 241000894006 Bacteria Species 0.000 claims 1
- 230000001580 bacterial effect Effects 0.000 claims 1
- 239000003795 chemical substances by application Substances 0.000 claims 1
- 230000008482 dysregulation Effects 0.000 claims 1
- 239000012634 fragment Substances 0.000 claims 1
- 230000008105 immune reaction Effects 0.000 claims 1
- 210000005027 intestinal barrier Anatomy 0.000 claims 1
- 230000004673 intestinal mucosal barrier function Effects 0.000 claims 1
- 238000000746 purification Methods 0.000 claims 1
- 238000007894 restriction fragment length polymorphism technique Methods 0.000 claims 1
- 238000012360 testing method Methods 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
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/136—Screening for pharmacological compounds
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
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- 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 Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
- Medical Treatment And Welfare Office Work (AREA)
Claims (15)
1. Postupak otkrivanja vjerojatnosti razvoja upalne bolesti crijeva (IBD) kod pacijenta, naznačen time, da postupak obuhvaća otkrivanje prisutnosti najmanje jednog zasebnog nukleotida polimorfizma na kromosomu 20q13 u ciljanom polinukleotidu, tako da kada je prisutan navedeni najmanje jedan zaseban nukleotid polimorfizma, tada spomenuti pacijent ima povećani rizik za razvoj IBD, pri čemu navedeni najmanje jedan zaseban nukleotid polimorfizma je T na rs2315008 ili je A na rs4809330 u blizini TNFRSF6B gena.
2. Postupak prema zahtjevu 1, naznačen time, da nadalje obuhvaća otkrivanje prisutnosti najmanje jednog zasebnog nukleotida polimorfizma u ciljanom polinukleotidu, pri čemu je navedeni najmanje jedan zaseban nukleotid polimorfizma iznesen u Tablici odabranoj iz skupine koju čine Tablica 6A, Tablica 6B, Tablica 13, Tablica 14, Tablica 15, Tablica 16, Tablica 17, Tablica 18 i Tablica 19.
3. Postupak prema zahtjevu 2, naznačen time, da se prisutnost ili odsutnost svakog zasebnog nukleotida polimorfizma iznesenog u Tablici 6A, Tablici 6B, Tablici 13, Tablici 14, Tablici 15, Tablici 16, Tablici 17, Tablici 18 i Tablici 19, otkriva u ciljanom polinukleotidu.
4. Postupak prema bilo kojem zahtjevu od 1 do 3, naznačen time, da se ciljani polinukleotid amplificira prije otkrivanja.
5. Postupak prema bilo kojem zahtjevu od 1 do 3, naznačen time, da korak otkrivanja prisutnosti navedenog najmanje jednog zasebnog nukleotida polimorfizma nadalje obuhvaća korak analize uzorka polinukleotida, u svrhu određivanja prisutnosti navedenog najmanje jednog zasebnog nukleotida polimorfizma pomoću izvedbe postupka odabranog iz skupine koju čine otkrivanje specifične hibridizacije, mjerenje veličine alela, analiza duljine restrikcijskog fragmenta polimorfizma, analiza hibridizacije specifične za alel, reakcija ekstenzije primera zasebne baze i sekvenciranje amplificiranog polinukleotida.
6. Postupak prema bilo kojem zahtjevu od 1 do 3, naznačen time, da ciljani polinukleotid je DNK.
7. Postupak prema bilo kojem zahtjevu od 1 do 3, naznačen time, da se polinukleotidi koji imaju navedeni polimorfizam, dobivaju iz izolirane stanice od pacijenta.
8. Postupak otkrivanja vjerojatnosti razvoja IBD kod pacijenta, naznačen time, da postupak obuhvaća:
otkrivanje prisutnosti zasebnog nukleotida polimorfizma na kromosomu 21q22, tako da kada je prisutan navedeni zaseban nukleotid polimorfizma, tada spomenuti pacijent ima povećani rizik za razvoj IBD, pri čemu navedeni zaseban nukleotid polimorfizma je A na rs28336878 u blizini PSMG1 gena.
9. Postupak prema zahtjevu 8, naznačen time, da se ciljani polinukleotid amplificira prije otkrivanja.
10. Postupak prema zahtjevu 8, naznačen time, da korak otkrivanja prisutnosti navedenog zasebnog nukleotida polimorfizma nadalje obuhvaća korak analize uzorka polinukleotida, u svrhu određivanja prisutnosti navedenog zasebnog nukleotida polimorfizma pomoću izvedbe postupka odabranog iz skupine koju čine otkrivanje specifične hibridizacije, mjerenje veličine alela, analiza duljine restrikcijskog fragmenta polimorfizma, analiza hibridizacije specifične za alel, reakcija ekstenzije primera zasebne baze i sekvenciranje amplificiranog polinukleotida.
11. Postupak prema zahtjevu 8, naznačen time, da ciljani polinukleotid je DNK.
12. Postupak prema zahtjevu 8, naznačen time, da se polinukleotidi koji imaju navedeni polimorfizam, dobivaju iz izolirane stanice od pacijenta.
13. Uporaba izolirane nukleinske kiseline, naznačena time, da služi u postupku otkrivanja vjerojatnosti za razvoj IBD, pri čemu navedena nukleinska kiselina sadrži zaseban nukleotid polimorfizma, povezan s povećanim rizikom razvoja IBD, koji je odabran iz skupine koju čine T na rs2315008 ili A na rs4809330 u TNFRSF6B genu i A na rs2836878 u PSMG1 genu.
14. Postupak otkrivanja tvari koje moduliraju neprirodne fiziološke procese povezane s IBD, naznačen time, da postupak obuhvaća:
a) pribavljanje prethodno dobivenih uzoraka crijevne biopsije, koji izražavaju zaseban nukleotid polimorfizma odabran iz skupine koju čine T na rs2315008 ili A na rs4809330 u TNFRSF6B genu i A na rs2836878 u PSMG1 genu;
b) pribavljanje prethodno dobivenih uzoraka crijevne biopsije, koji izražavaju srodne sekvence u kojima je manjak polimorfizma iz koraka a);
c) stavljanje u doticaj stanica iz koraka a) i b) s ispitnim sredstvom; i
d) analiziranje koliko spomenuta tvar mijenja neprirodni fiziološki proces povezan s IBD u uzorcima iz koraka a) u odnosu na one iz koraka b), čime se identificiraju tvari koje moduliraju upalnu bolest crijeva.
15. Postupak prema zahtjevu 14, naznačen time, da je navedeni neprirodni fiziološki proces koji je povezan s IBD, odabran iz skupine koju čine nedostatak kod mukozne crijevne barijere, nedostatci kod bakterijskih pročišćavanja i disregulacije imunih reakcija na odgovarajuće intestinalne bakterije.
Applications Claiming Priority (4)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US2984108P | 2008-02-19 | 2008-02-19 | |
| US5948608P | 2008-06-06 | 2008-06-06 | |
| PCT/US2009/034586 WO2009105590A2 (en) | 2008-02-19 | 2009-02-19 | Identification of pediatric onset inflammatory bowel disease loci and methods of use thereof for the diagnosis and treatment of the same |
| EP09712711.2A EP2257643B1 (en) | 2008-02-19 | 2009-02-19 | Identification of pediatric onset inflammatory bowel disease loci and methods of use thereof for the diagnosis and treatment of the same |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HRP20150684T1 true HRP20150684T1 (hr) | 2015-09-11 |
Family
ID=40986189
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HRP20150684TT HRP20150684T1 (hr) | 2008-02-19 | 2015-06-26 | Identifikacija specifiäśnih mjesta nastanka - genetski loci - upalne bolesti crijeva kod djece i postupci njihove uporabe u takvoj dijagnozi te njihovo lijeäśenje |
Country Status (9)
| Country | Link |
|---|---|
| US (3) | US20110177502A1 (hr) |
| EP (1) | EP2257643B1 (hr) |
| AU (1) | AU2009215441B2 (hr) |
| CA (1) | CA2714713C (hr) |
| DK (1) | DK2257643T3 (hr) |
| HR (1) | HRP20150684T1 (hr) |
| HU (1) | HUE026542T2 (hr) |
| SI (1) | SI2257643T1 (hr) |
| WO (1) | WO2009105590A2 (hr) |
Families Citing this family (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2009052512A2 (en) * | 2007-10-19 | 2009-04-23 | Cedars-Sinai Medical Center | Methods of using genetic variants to diagnose and predict inflammatory bowel disease |
| AU2008334095A1 (en) * | 2007-11-29 | 2009-06-11 | Genentech, Inc. | Gene expression markers for inflammatory bowel disease |
| WO2010062960A2 (en) | 2008-11-26 | 2010-06-03 | Cedars-Sinai Medical Center | METHODS OF DETERMINING RESPONSIVENESS TO ANTI-TNFα THERAPY IN INFLAMMATORY BOWEL DISEASE |
| JP2013528389A (ja) * | 2010-06-04 | 2013-07-11 | ネステク ソシエテ アノニム | 炎症性腸疾患の診断を改善させる方法 |
| KR102343212B1 (ko) | 2013-03-27 | 2021-12-23 | 세다르스-신나이 메디칼 센터 | Tl1a 기능 및 관련된 신호전달 경로의 저해에 의한 섬유증 및 염증의 완화 및 반전 |
| KR20210107176A (ko) * | 2013-05-17 | 2021-08-31 | 세다르스-신나이 메디칼 센터 | 크론병과 연관된 tnfsf15와 dcr3의 변이체 |
| US10316083B2 (en) | 2013-07-19 | 2019-06-11 | Cedars-Sinai Medical Center | Signature of TL1A (TNFSF15) signaling pathway |
| KR20220065091A (ko) * | 2014-03-27 | 2022-05-19 | 제넨테크, 인크. | 염증성 장 질환의 진단 및 치료 방법 |
| JP2018523488A (ja) | 2015-08-21 | 2018-08-23 | ザ・チルドレンズ・ホスピタル・オブ・フィラデルフィアＴｈｅ Ｃｈｉｌｄｒｅｎ’Ｓ Ｈｏｓｐｉｔａｌ Ｏｆ Ｐｈｉｌａｄｅｌｐｈｉａ | 自己免疫疾患の治療及び診断のために組み合わせて使用するための組成物及び方法 |
| JP7082945B2 (ja) | 2016-03-17 | 2022-06-09 | シーダーズ―シナイ メディカル センター | Ｒｎａｓｅｔ２により炎症性腸疾患を診断する方法 |
| WO2022201181A1 (en) * | 2021-03-24 | 2022-09-29 | Indian Council Of Medical Research | RT-LAMP ASSAY FOR DETECTION OF HUMAN β-ACTIN HOUSEKEEPING GENE |
Family Cites Families (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| NZ207394A (en) | 1983-03-08 | 1987-03-06 | Commw Serum Lab Commission | Detecting or determining sequence of amino acids |
| WO1991019810A1 (en) | 1990-06-15 | 1991-12-26 | California Biotechnology Inc. | Transgenic non-human mammal displaying the amyloid-forming pathology of alzheimer's disease |
| JPH07506720A (ja) | 1992-01-07 | 1995-07-27 | アテナ ニューロサイエンシーズ， インコーポレイテッド | アルツハイマー病のトランスジェニック動物モデル |
| US5604102A (en) | 1992-04-15 | 1997-02-18 | Athena Neurosciences, Inc. | Methods of screening for β-amyloid peptide production inhibitors |
| GB9212416D0 (en) | 1992-06-11 | 1992-07-22 | Medical Res Council | Reversible binding substances |
| US5877399A (en) | 1994-01-27 | 1999-03-02 | Johns Hopkins University | Transgenic mice expressing APP-Swedish mutation develop progressive neurologic disease |
| US5849999A (en) | 1996-10-16 | 1998-12-15 | The Mclean Hospital Corporation | Transgenic non-human mice expressing Flag-APP-C100 protein develop alzheimer's disease brain morphology and behavior |
| US6057098A (en) | 1997-04-04 | 2000-05-02 | Biosite Diagnostics, Inc. | Polyvalent display libraries |
| CA2634146A1 (en) * | 2005-12-19 | 2007-06-28 | Genizon Biosciences Inc. | Genemap of the human genes associated with crohn's disease |
-
2009
- 2009-02-19 DK DK09712711.2T patent/DK2257643T3/en active
- 2009-02-19 AU AU2009215441A patent/AU2009215441B2/en active Active
- 2009-02-19 WO PCT/US2009/034586 patent/WO2009105590A2/en active Application Filing
- 2009-02-19 HU HUE09712711A patent/HUE026542T2/hu unknown
- 2009-02-19 EP EP09712711.2A patent/EP2257643B1/en active Active
- 2009-02-19 CA CA2714713A patent/CA2714713C/en active Active
- 2009-02-19 SI SI200931227T patent/SI2257643T1/sl unknown
- 2009-02-19 US US12/735,843 patent/US20110177502A1/en not_active Abandoned
-
2015
- 2015-06-26 HR HRP20150684TT patent/HRP20150684T1/hr unknown
-
2018
- 2018-02-20 US US15/899,811 patent/US11111539B2/en active Active
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2021
- 2021-09-03 US US17/466,648 patent/US20220056529A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| SI2257643T1 (sl) | 2018-12-31 |
| AU2009215441B2 (en) | 2015-07-02 |
| WO2009105590A3 (en) | 2010-01-07 |
| EP2257643B1 (en) | 2015-04-08 |
| HUE026542T2 (hu) | 2016-06-28 |
| CA2714713A1 (en) | 2009-08-27 |
| US20110177502A1 (en) | 2011-07-21 |
| EP2257643A4 (en) | 2012-08-22 |
| CA2714713C (en) | 2018-02-27 |
| WO2009105590A2 (en) | 2009-08-27 |
| US20190218612A1 (en) | 2019-07-18 |
| EP2257643A2 (en) | 2010-12-08 |
| DK2257643T3 (en) | 2015-06-29 |
| AU2009215441A1 (en) | 2009-08-27 |
| US20220056529A1 (en) | 2022-02-24 |
| US11111539B2 (en) | 2021-09-07 |
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