BR112017022779A2 - métodos para detectar uma mutação de deleção em marco (indel) no éxon 9 do gene da calreticulina, para diagnosticar uma doença hematopoiética em um paciente, para determinar a probabilidade de um paciente desenvolver uma mutação em um gene de via jak-stat para determinar o prognóstico de um paciente com uma doença mieloproliferativa, kit, e, sonda ou iniciador oligonucleotídico - Google Patents
métodos para detectar uma mutação de deleção em marco (indel) no éxon 9 do gene da calreticulina, para diagnosticar uma doença hematopoiética em um paciente, para determinar a probabilidade de um paciente desenvolver uma mutação em um gene de via jak-stat para determinar o prognóstico de um paciente com uma doença mieloproliferativa, kit, e, sonda ou iniciador oligonucleotídicoInfo
- Publication number
- BR112017022779A2 BR112017022779A2 BR112017022779-7A BR112017022779A BR112017022779A2 BR 112017022779 A2 BR112017022779 A2 BR 112017022779A2 BR 112017022779 A BR112017022779 A BR 112017022779A BR 112017022779 A2 BR112017022779 A2 BR 112017022779A2
- Authority
- BR
- Brazil
- Prior art keywords
- patient
- mutation
- disease
- methods
- jak
- Prior art date
Links
- 238000000034 method Methods 0.000 title abstract 3
- 230000035772 mutation Effects 0.000 title abstract 3
- 230000004163 JAK-STAT signaling pathway Effects 0.000 title abstract 2
- 208000014767 Myeloproliferative disease Diseases 0.000 title abstract 2
- 230000037430 deletion Effects 0.000 title abstract 2
- 238000012217 deletion Methods 0.000 title abstract 2
- 238000004393 prognosis Methods 0.000 title abstract 2
- 108090000623 proteins and genes Proteins 0.000 title abstract 2
- 108090000549 Calreticulin Proteins 0.000 title 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 title 1
- 208000014951 hematologic disease Diseases 0.000 title 1
- 208000018706 hematopoietic system disease Diseases 0.000 title 1
- 239000002751 oligonucleotide probe Substances 0.000 title 1
- 206010069754 Acquired gene mutation Diseases 0.000 abstract 1
- 101150117824 Calr gene Proteins 0.000 abstract 1
- 210000004602 germ cell Anatomy 0.000 abstract 1
- 239000000203 mixture Substances 0.000 abstract 1
- 230000037439 somatic mutation 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
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
-
- 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
- C12Q2600/118—Prognosis of disease development
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Engineering & Computer Science (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Wood Science & Technology (AREA)
- Physics & Mathematics (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Hospice & Palliative Care (AREA)
- Biophysics (AREA)
- Oncology (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
são providos aqui métodos e composições para a detecção de mutações da linha germinal de deleção no marco no gene calr. também são fornecidos métodos para determinar o prognóstico de doenças mieloproliferativas e a probabilidade de desenvolver mutações somáticas em genes envolvidos na via jak-stat.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201562151742P | 2015-04-23 | 2015-04-23 | |
US62/151742 | 2015-04-23 | ||
PCT/US2016/028877 WO2016172505A2 (en) | 2015-04-23 | 2016-04-22 | Methods and compositions for the detection of calr mutations in myeloproliferative diseases |
Publications (2)
Publication Number | Publication Date |
---|---|
BR112017022779A2 true BR112017022779A2 (pt) | 2018-07-17 |
BR112017022779B1 BR112017022779B1 (pt) | 2024-04-30 |
Family
ID=57144325
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
BR112017022779-7A BR112017022779B1 (pt) | 2015-04-23 | 2016-04-22 | Método para detectar uma mutação de deleção in-frame no éxon 9 do gene da calreticulina |
Country Status (8)
Country | Link |
---|---|
US (3) | US10519509B2 (pt) |
EP (1) | EP3286336A4 (pt) |
CN (1) | CN107949643A (pt) |
BR (1) | BR112017022779B1 (pt) |
CA (1) | CA2983820A1 (pt) |
HK (1) | HK1254254A1 (pt) |
MX (2) | MX2017013623A (pt) |
WO (1) | WO2016172505A2 (pt) |
Families Citing this family (6)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
JP7189399B2 (ja) * | 2017-01-18 | 2022-12-14 | アンスティチュ ナショナル ドゥ ラ サンテ エ ドゥ ラ ルシェルシュ メディカル | 骨髄増殖性障害を患う患者の処置のための方法及び医薬組成物 |
CN107164474B (zh) * | 2017-05-22 | 2020-09-04 | 复旦大学附属华山医院 | 一种检测calr基因2型突变的引物组合物及试剂盒 |
CN107679366A (zh) * | 2017-08-30 | 2018-02-09 | 武汉古奥基因科技有限公司 | 一种基因组变异数据的计算方法 |
WO2021039958A1 (ja) * | 2019-08-30 | 2021-03-04 | 東洋鋼鈑株式会社 | 骨髄増殖性腫瘍に関連する遺伝子変異評価用キット |
CN113764044B (zh) * | 2021-08-31 | 2023-07-21 | 华南理工大学 | 一种构建骨髓增生异常综合征进展基因预测模型的方法 |
CN115141886B (zh) * | 2022-06-28 | 2023-06-06 | 厦门艾德生物医药科技股份有限公司 | 一种基于高通量测序的髓系白血病基因突变检测的探针引物组及其应用 |
Family Cites Families (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
FR2877013A1 (fr) | 2004-10-27 | 2006-04-28 | Assist Publ Hopitaux De Paris | Indentification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez |
US8841074B2 (en) | 2009-12-04 | 2014-09-23 | Quest Diagnostics Investments Incorporated | MPL mutations in JAK2 V617F negative patients with myeloproliferative disease |
DK2808338T3 (da) | 2013-09-16 | 2016-06-06 | Cemm - Forschungszentrum Für Molekulare Medizin Gmbh | Mutant calreticulin til diagnose af myeloide maligniteter |
-
2016
- 2016-04-22 WO PCT/US2016/028877 patent/WO2016172505A2/en active Application Filing
- 2016-04-22 CA CA2983820A patent/CA2983820A1/en active Pending
- 2016-04-22 US US15/135,957 patent/US10519509B2/en active Active
- 2016-04-22 BR BR112017022779-7A patent/BR112017022779B1/pt active IP Right Grant
- 2016-04-22 MX MX2017013623A patent/MX2017013623A/es unknown
- 2016-04-22 EP EP16783950.5A patent/EP3286336A4/en not_active Withdrawn
- 2016-04-22 CN CN201680036596.8A patent/CN107949643A/zh active Pending
-
2017
- 2017-10-23 MX MX2022000176A patent/MX2022000176A/es unknown
-
2018
- 2018-10-18 HK HK18113398.1A patent/HK1254254A1/zh unknown
-
2019
- 2019-12-19 US US16/721,038 patent/US20200165688A1/en not_active Abandoned
-
2022
- 2022-02-04 US US17/665,354 patent/US20220364180A1/en not_active Abandoned
Also Published As
Publication number | Publication date |
---|---|
US10519509B2 (en) | 2019-12-31 |
MX2017013623A (es) | 2018-07-06 |
US20200165688A1 (en) | 2020-05-28 |
US20160312303A1 (en) | 2016-10-27 |
WO2016172505A3 (en) | 2016-12-08 |
BR112017022779B1 (pt) | 2024-04-30 |
EP3286336A2 (en) | 2018-02-28 |
WO2016172505A2 (en) | 2016-10-27 |
EP3286336A4 (en) | 2018-11-14 |
CA2983820A1 (en) | 2016-10-27 |
MX2022000176A (es) | 2022-02-21 |
CN107949643A (zh) | 2018-04-20 |
HK1254254A1 (zh) | 2019-07-12 |
US20220364180A1 (en) | 2022-11-17 |
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B07D | Technical examination (opinion) related to article 229 of industrial property law [chapter 7.4 patent gazette] |
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