BRPI1013410A2 - processos de pcr para a caracterização da região não traduzida a 5' dos genes fmr1 e fmr2 - Google Patents
processos de pcr para a caracterização da região não traduzida a 5' dos genes fmr1 e fmr2Info
- Publication number
- BRPI1013410A2 BRPI1013410A2 BRPI1013410A BRPI1013410A BRPI1013410A2 BR PI1013410 A2 BRPI1013410 A2 BR PI1013410A2 BR PI1013410 A BRPI1013410 A BR PI1013410A BR PI1013410 A BRPI1013410 A BR PI1013410A BR PI1013410 A2 BRPI1013410 A2 BR PI1013410A2
- Authority
- BR
- Brazil
- Prior art keywords
- fmr1
- untranslated region
- characterization
- pcr processes
- region
- Prior art date
Links
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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6851—Quantitative amplification
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Microbiology (AREA)
- Physics & Mathematics (AREA)
- Molecular Biology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
processos de pcr para a caracterização da região não traduzida a 5' dos genes fmr1 e fmr2 a presente invenção refere-se a processos de determinação da presença e da posição de agg ou elementos de interrupção dentro de uma região de repetição com três nucleotídeos (por exemplo, cgg) e a processos de determinação do número de repetições presentes nesta região, através da amplificação de um conjunto de produtos com um conjunto de iniciadores do qual pelo menos um compreende uma parte da região de repetição de cgg e da resolução dos produtos para produzir uma representação de tamanho e abundância do produto .
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US16297709P | 2009-03-24 | 2009-03-24 | |
US61/162,977 | 2009-03-24 | ||
PCT/US2010/000426 WO2010110835A1 (en) | 2009-03-24 | 2010-02-16 | Pcr methods for characterizing the 5' untranslated region of the fmr1 and fmr2 genes |
Publications (2)
Publication Number | Publication Date |
---|---|
BRPI1013410A2 true BRPI1013410A2 (pt) | 2019-07-02 |
BRPI1013410B1 BRPI1013410B1 (pt) | 2020-10-06 |
Family
ID=42313963
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
BRPI1013410-7A BRPI1013410B1 (pt) | 2009-03-24 | 2010-02-16 | Método de analisar se uma sequência de interrupção está presente em pelo menos uma região rica em cgg compreendida por pelo menos um molde em uma amostra |
Country Status (12)
Country | Link |
---|---|
US (2) | US8679757B2 (pt) |
EP (1) | EP2411532B1 (pt) |
KR (1) | KR20110138387A (pt) |
CN (2) | CN102449171B (pt) |
AU (1) | AU2010229334B2 (pt) |
BR (1) | BRPI1013410B1 (pt) |
ES (1) | ES2629400T3 (pt) |
HK (1) | HK1220988A1 (pt) |
IL (1) | IL215296A (pt) |
RU (1) | RU2011142773A (pt) |
WO (1) | WO2010110835A1 (pt) |
ZA (1) | ZA201107298B (pt) |
Families Citing this family (23)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
NZ584793A (en) | 2007-10-26 | 2012-05-25 | Academisch Ziekenhuis Leiden | Means and methods for counteracting muscle disorders |
EP2119783A1 (en) | 2008-05-14 | 2009-11-18 | Prosensa Technologies B.V. | Method for efficient exon (44) skipping in Duchenne Muscular Dystrophy and associated means |
EP2285979B2 (en) | 2008-05-27 | 2020-02-19 | Dako Denmark A/S | Hybridization compositions and methods |
WO2010097656A1 (en) | 2009-02-26 | 2010-09-02 | Dako Denmark A/S | Compositions and methods for performing a stringent wash step in hybridization applications |
EP2488665B1 (en) | 2009-10-16 | 2017-12-13 | National University of Singapore | Screening method for trinucleotide repeat sequences |
EP3056574B1 (en) * | 2010-02-05 | 2018-08-22 | Quest Diagnostics Investments Incorporated | Method to detect repeat sequence motifs in nucleic acid |
WO2012047970A1 (en) * | 2010-10-05 | 2012-04-12 | Board Of Trustees Of Michigan State University | Regulatory factors controlling oil biosynthesis in microalgae and their use |
AU2011320359B2 (en) | 2010-10-29 | 2015-07-16 | Asuragen, Inc. | mPCR methods for analyzing repeat sequences |
WO2013046033A1 (en) | 2011-09-30 | 2013-04-04 | Dako Denmark A/S | Hybridization compositions and methods using formamide |
WO2013057310A2 (en) * | 2011-10-21 | 2013-04-25 | Dako Denmark A/S | Hybridization compositions and methods |
WO2014015273A1 (en) * | 2012-07-20 | 2014-01-23 | Asuragen, Inc. | Comprehensive fmr1 genotyping |
EP2992083A4 (en) * | 2013-05-01 | 2017-02-08 | Advanced Liquid Logic, Inc. | Analysis of dna |
CA2929249A1 (en) | 2013-11-13 | 2015-05-21 | Counsyl, Inc. | Automated nucleic acid repeat count calling methods |
WO2017015543A1 (en) * | 2015-07-23 | 2017-01-26 | Asuragen, Inc. | Methods, compositions, kits, and uses for analysis of nucleic acids comprising repeating a/t-rich segments |
KR20180064544A (ko) | 2015-11-03 | 2018-06-14 | 아수라겐, 인크. | 반복부 서열의 핵산 크기 검출 방법 |
RU2620944C1 (ru) * | 2016-12-27 | 2017-05-30 | Федеральное государственное бюджетное научное учреждение "Научный центр неврологии" (ФГБНУ НЦН) | Способ выявления экспансии тринуклеотидных CGG-повторов в 5'-нетранслируемой, промоторной области гена FMR1 при заболевании синдрома атаксии/тремора, ассоциированного с ломкой Х-хромосомы (FXTAS) |
CN108866176B (zh) * | 2017-07-11 | 2021-09-14 | 北京阅微基因技术股份有限公司 | 一种对fmr1基因5’非翻译区cgg单元重复数量的检测体系及检测试剂盒 |
CN107523621A (zh) * | 2017-09-04 | 2017-12-29 | 广州市达瑞生物技术股份有限公司 | 一种用于检测脆性x综合征的引物组及其试剂盒 |
CA3130854A1 (en) * | 2019-02-26 | 2020-09-03 | Nogra Pharma Limited | Fragile x mental retardation protein interfering oligonucleotides and methods of using same |
CN110157782A (zh) * | 2019-03-08 | 2019-08-23 | 北京华瑞康源生物科技发展有限公司 | 一种用于快速检测fmr1基因cgg重复序列的引物群及pcr试剂盒 |
CN110577987B (zh) * | 2019-06-24 | 2023-08-25 | 厦门百欧迅生物科技有限公司 | 一种fmr1基因cgg重复序列的检测方法及其应用 |
CN113215228A (zh) * | 2021-02-07 | 2021-08-06 | 迈基诺(重庆)基因科技有限责任公司 | 脆性x综合征fmr1基因检测引物、试剂盒及其应用 |
US20230407398A1 (en) * | 2022-02-09 | 2023-12-21 | Laboratory Corporation Of America Holdings | Methods and Systems for Detecting Methylation of Fragile X |
Family Cites Families (18)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US4683202A (en) | 1985-03-28 | 1987-07-28 | Cetus Corporation | Process for amplifying nucleic acid sequences |
FR2672618B1 (fr) | 1991-02-13 | 1994-12-02 | Centre Nat Rech Scient | Fragment d'acide nucleique de la region du chromosome x implique dans le syndrome x fragile, sonde nucleotidique et procede pour le diagnostic du retard mental avec x fragile. |
WO1992014840A1 (fr) | 1991-02-13 | 1992-09-03 | Institut National De La Sante Et De La Recherche Medicale | Fragment d'acide nucleique de la region du chromosome x implique dans le syndrome x fragile, sonde nucleotidique et procede pour le diagnostic du retard mental avec x fragile |
US6200747B1 (en) | 1992-01-28 | 2001-03-13 | North Shore University Hospital Research Corp. | Method and kits for detection of fragile X specific, GC-rich DNA sequences |
US5648211A (en) | 1994-04-18 | 1997-07-15 | Becton, Dickinson And Company | Strand displacement amplification using thermophilic enzymes |
US5976842A (en) | 1997-10-30 | 1999-11-02 | Clontech Laboratories, Inc. | Methods and compositions for use in high fidelity polymerase chain reaction |
JP2002525049A (ja) | 1998-09-15 | 2002-08-13 | イェール ユニバーシティ | ローリングサークル増幅を用いる分子クローニング |
US6143504A (en) | 1998-10-27 | 2000-11-07 | Arch Development Corporation | Methods and compositions for the diagnosis of fragile X syndrome |
ATE374833T1 (de) | 1998-11-09 | 2007-10-15 | Eiken Chemical | Verfahren zur synthese von nukleinsäuren |
US6335165B1 (en) | 1999-01-25 | 2002-01-01 | Gamidagen Ltd. | Methods and kits for characterizing GC-rich nucleic acid sequences |
US6326173B1 (en) | 1999-04-12 | 2001-12-04 | Nanogen/Becton Dickinson Partnership | Electronically mediated nucleic acid amplification in NASBA |
EP1088891B1 (en) | 1999-09-28 | 2005-01-12 | Roche Diagnostics GmbH | Thermostable enzyme promoting the fidelity of thermostable DNA polymerases - for improvement of nucleic acid synthesis and amplification in vitro |
US6670124B1 (en) | 1999-12-20 | 2003-12-30 | Stemcyte, Inc. | High throughput methods of HLA typing |
JP2001269188A (ja) | 2000-03-11 | 2001-10-02 | Roche Diagnostics Gmbh | Pcrにおける性能が向上したb型dnaポリメラーゼ変異体 |
WO2004110246A2 (en) * | 2003-05-15 | 2004-12-23 | Illumina, Inc. | Methods and compositions for diagnosing conditions associated with specific dna methylation patterns |
US7855053B2 (en) | 2006-07-19 | 2010-12-21 | The Regents Of The University Of California | Methods for detecting the presence of expanded CGG repeats in the FMR1 gene 5′ untranslated region |
US8163480B2 (en) | 2006-10-05 | 2012-04-24 | Quest Diagnostics Investments Incorporated | Nucleic acid size detection method |
US8409805B2 (en) | 2009-02-13 | 2013-04-02 | Asuragen, Inc. | Method of amplification of GC-rich DNA templates |
-
2010
- 2010-02-16 CN CN201080032511.1A patent/CN102449171B/zh active Active
- 2010-02-16 RU RU2011142773/10A patent/RU2011142773A/ru unknown
- 2010-02-16 ES ES10708427.9T patent/ES2629400T3/es active Active
- 2010-02-16 WO PCT/US2010/000426 patent/WO2010110835A1/en active Application Filing
- 2010-02-16 BR BRPI1013410-7A patent/BRPI1013410B1/pt active IP Right Grant
- 2010-02-16 AU AU2010229334A patent/AU2010229334B2/en active Active
- 2010-02-16 US US12/706,472 patent/US8679757B2/en not_active Expired - Fee Related
- 2010-02-16 EP EP10708427.9A patent/EP2411532B1/en active Active
- 2010-02-16 KR KR1020117024449A patent/KR20110138387A/ko not_active Application Discontinuation
- 2010-02-16 CN CN201510735951.8A patent/CN105296474B/zh active Active
-
2011
- 2011-09-22 IL IL215296A patent/IL215296A/en active IP Right Grant
- 2011-10-05 ZA ZA2011/07298A patent/ZA201107298B/en unknown
-
2014
- 2014-02-26 US US14/191,128 patent/US9783848B2/en active Active
-
2016
- 2016-07-27 HK HK16108967.4A patent/HK1220988A1/zh unknown
Also Published As
Publication number | Publication date |
---|---|
US20100243451A1 (en) | 2010-09-30 |
EP2411532A1 (en) | 2012-02-01 |
US8679757B2 (en) | 2014-03-25 |
KR20110138387A (ko) | 2011-12-27 |
US20140248625A1 (en) | 2014-09-04 |
CN105296474A (zh) | 2016-02-03 |
RU2011142773A (ru) | 2013-04-27 |
IL215296A0 (en) | 2011-12-29 |
WO2010110835A1 (en) | 2010-09-30 |
AU2010229334B2 (en) | 2015-08-20 |
US9783848B2 (en) | 2017-10-10 |
BRPI1013410B1 (pt) | 2020-10-06 |
IL215296A (en) | 2016-08-31 |
AU2010229334A1 (en) | 2011-10-20 |
CN102449171A (zh) | 2012-05-09 |
HK1220988A1 (zh) | 2017-05-19 |
CN105296474B (zh) | 2020-05-12 |
ES2629400T3 (es) | 2017-08-09 |
EP2411532B1 (en) | 2017-04-05 |
ZA201107298B (en) | 2018-11-28 |
CN102449171B (zh) | 2015-12-02 |
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Free format text: PRAZO DE VALIDADE: 10 (DEZ) ANOS CONTADOS A PARTIR DE 06/10/2020, OBSERVADAS AS CONDICOES LEGAIS. |