BR112022009380A2 - Iniciadores oligonucleotídicos para a caracterização do trato cag e determinação de mrna mutante no contexto de distúrbios de poliglutamina. - Google Patents

Iniciadores oligonucleotídicos para a caracterização do trato cag e determinação de mrna mutante no contexto de distúrbios de poliglutamina.

Info

Publication number
BR112022009380A2
BR112022009380A2 BR112022009380A BR112022009380A BR112022009380A2 BR 112022009380 A2 BR112022009380 A2 BR 112022009380A2 BR 112022009380 A BR112022009380 A BR 112022009380A BR 112022009380 A BR112022009380 A BR 112022009380A BR 112022009380 A2 BR112022009380 A2 BR 112022009380A2
Authority
BR
Brazil
Prior art keywords
context
determination
characterization
polyglutamine disorders
mutant mrna
Prior art date
Application number
BR112022009380A
Other languages
English (en)
Inventor
Jorge Gonçalves Pereira Nobre Rui
Isabel Monteiro Lopes Sara
Fernando Morgado Pereira De Almeida Luís
Original Assignee
Univ De Coimbra
Centro De Neurociencias E Biologia Celular
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ De Coimbra, Centro De Neurociencias E Biologia Celular filed Critical Univ De Coimbra
Publication of BR112022009380A2 publication Critical patent/BR112022009380A2/pt

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Classifications

    • 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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (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

INICIADORES OLIGONUCLEOTÍDICOS PARA A CARACTERIZAÇÃO DO TRATO CAG E DETERMINAÇÃO DE mRNA MUTANTE NO CONTEXTO DE DISTÚRBIOS DE POLIGLUTAMINA. A presente divulgação refere-se a um protocolo experimental e iniciadores oligonucleotídicos para a determinação precisa do número de repetições CAG no contexto da doença de Machado-Joseph (DMJ/AEC3) e doença de Huntington (DH), e para a identificação de polimorfismos flanqueadores intrônicos e exônicos no gene ATXN3 de pacientes com DMJ/AEC3 e gene da huntingtina mutante da DH.
BR112022009380A 2019-11-13 2020-11-13 Iniciadores oligonucleotídicos para a caracterização do trato cag e determinação de mrna mutante no contexto de distúrbios de poliglutamina. BR112022009380A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
PT11590919 2019-11-13
PCT/IB2020/060705 WO2021095001A1 (en) 2019-11-13 2020-11-13 Oligonucleotide primers for the characterization of the cag tract and measurement of mutant mrna in the context of polyglutamine disorders

Publications (1)

Publication Number Publication Date
BR112022009380A2 true BR112022009380A2 (pt) 2022-08-09

Family

ID=73835633

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112022009380A BR112022009380A2 (pt) 2019-11-13 2020-11-13 Iniciadores oligonucleotídicos para a caracterização do trato cag e determinação de mrna mutante no contexto de distúrbios de poliglutamina.

Country Status (3)

Country Link
EP (1) EP4058602A1 (pt)
BR (1) BR112022009380A2 (pt)
WO (1) WO2021095001A1 (pt)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114317719B (zh) * 2021-12-31 2023-12-05 苏州贝康医疗器械有限公司 用于检测脊髓小脑共济失调动态突变的试剂盒、方法和装置

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20050255086A1 (en) * 2002-08-05 2005-11-17 Davidson Beverly L Nucleic acid silencing of Huntington's Disease gene
KR100727318B1 (ko) * 2004-10-15 2007-06-12 사단법인 삼성생명공익재단삼성서울병원 삼핵산 반복서열 증가로 인한 유전성 뇌신경 퇴화질환진단용 디엔에이 칩

Also Published As

Publication number Publication date
WO2021095001A1 (en) 2021-05-20
EP4058602A1 (en) 2022-09-21

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Legal Events

Date Code Title Description
B11A Dismissal acc. art.33 of ipl - examination not requested within 36 months of filing
B11Y Definitive dismissal - extension of time limit for request of examination expired [chapter 11.1.1 patent gazette]