MX2019005684A - Métodos para detectar mutaciones de fibrosis quística mediante el uso de extracción con puntas mitra. - Google Patents

Métodos para detectar mutaciones de fibrosis quística mediante el uso de extracción con puntas mitra.

Info

Publication number
MX2019005684A
MX2019005684A MX2019005684A MX2019005684A MX2019005684A MX 2019005684 A MX2019005684 A MX 2019005684A MX 2019005684 A MX2019005684 A MX 2019005684A MX 2019005684 A MX2019005684 A MX 2019005684A MX 2019005684 A MX2019005684 A MX 2019005684A
Authority
MX
Mexico
Prior art keywords
cystic fibrosis
methods
tip extraction
fibrosis mutations
detecting
Prior art date
Application number
MX2019005684A
Other languages
English (en)
Inventor
J Clarke Nigel
SANDERS Heather
Original Assignee
Quest Diagnostics Invest Llc
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 Quest Diagnostics Invest Llc filed Critical Quest Diagnostics Invest Llc
Publication of MX2019005684A publication Critical patent/MX2019005684A/es

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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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • 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
    • 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
    • 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
    • C12Q2600/16—Primer sets for multiplex assays

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pathology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

La presente divulgación proporciona métodos para determinar si un paciente que muestra síntomas de fibrosis quística, o un paciente en riesgo de padecer fibrosis quística, se podría beneficiar del tratamiento con uno o más agentes terapéuticos anti fibrosis quística. Estos métodos se basan en detectar mutaciones relacionadas a la fibrosis quística hereditaria en muestras de fluidos biológicos secos de volumen pequeño, las cuales son recolectadas utilizando un dispositivo volumétrico absortivo de micromuestreo. Los kits para usarse en la práctica de los métodos también son proporcionados.
MX2019005684A 2016-11-15 2017-11-13 Métodos para detectar mutaciones de fibrosis quística mediante el uso de extracción con puntas mitra. MX2019005684A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201662422338P 2016-11-15 2016-11-15
PCT/US2017/061311 WO2018093723A1 (en) 2016-11-15 2017-11-13 Methods for detecting cystic fibrosis mutations using mitra tip extraction

Publications (1)

Publication Number Publication Date
MX2019005684A true MX2019005684A (es) 2019-10-30

Family

ID=62106739

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2019005684A MX2019005684A (es) 2016-11-15 2017-11-13 Métodos para detectar mutaciones de fibrosis quística mediante el uso de extracción con puntas mitra.

Country Status (8)

Country Link
US (3) US11473144B2 (es)
EP (1) EP3541953A4 (es)
JP (2) JP2020501601A (es)
CN (1) CN110168100A (es)
BR (1) BR112019009790A2 (es)
CA (1) CA3044033A1 (es)
MX (1) MX2019005684A (es)
WO (1) WO2018093723A1 (es)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10656059B2 (en) 2018-03-07 2020-05-19 Alcala Pharmaceutical, Inc. Method for qualitative and quantitative multiplexing of drug analytes from biological samples
BR112021003185A2 (pt) * 2018-08-22 2021-05-11 Quest Diagnostics Investments Llc detecção de micro-amostragem em diabetes
US11162921B2 (en) 2019-04-01 2021-11-02 Alcala Pharmaceutical, Inc. Method for extracting pharmacogenetic DNA from biological fluid retained in a solid resin collection device
WO2021091590A1 (en) * 2019-11-08 2021-05-14 Tissue Regeneration Technologies, Llc A method of treating the lungs

Family Cites Families (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4843155A (en) 1987-11-19 1989-06-27 Piotr Chomczynski Product and process for isolating RNA
US5840702A (en) * 1996-03-22 1998-11-24 Uab Research Foundation Cystic fibrosis treatment
US20040009924A1 (en) 1997-05-30 2004-01-15 Veronique Stoven Anticancer products for treating cystic fibrosis
AR033448A1 (es) 2001-03-28 2003-12-17 Ortho Clinical Diagnostics Inc Prueba de combinacion antigeno-anticuerpo para hepatitis c para una deteccion temprana de la infeccion
CN101641449B (zh) 2005-06-23 2014-01-29 科因股份有限公司 用于多态性的高通量鉴定和检测的策略
US7838646B2 (en) 2005-08-18 2010-11-23 Quest Diagnostics Investments Incorporated Cystic fibrosis transmembrane conductance regulator gene mutations
US8962293B2 (en) 2006-10-18 2015-02-24 Roche Molecular Systems, Inc. DNA polymerases and related methods
ES2533861T3 (es) 2009-01-07 2015-04-15 Arcedi Biotech Aps Enriquecimiento e identificación de células fetales en sangre materna y ligandos para tal uso
FI3425062T3 (fi) 2010-06-09 2023-09-01 Keygene Nv Kombinatorisia sekvenssiviivakoodeja suuren suorituskyvyn seulontaa varten
AU2011274090B2 (en) 2010-06-30 2015-04-09 Bgi Genomics Co., Ltd New PCR sequencing method and use thereof in HLA genotyping
US20130116597A1 (en) 2011-11-04 2013-05-09 Phenomenex, Inc. Method and apparatus for acquiring blood for testing
US20160068906A1 (en) 2014-09-08 2016-03-10 Baby Genes, Inc. Method of screening newborns for gene variants
US20160281166A1 (en) * 2015-03-23 2016-09-29 Parabase Genomics, Inc. Methods and systems for screening diseases in subjects
CN110168111A (zh) 2016-11-15 2019-08-23 奎斯特诊断投资有限责任公司 用于检测丙型肝炎病毒的方法和装置

Also Published As

Publication number Publication date
US20230134138A1 (en) 2023-05-04
JP2020501601A (ja) 2020-01-23
US11473144B2 (en) 2022-10-18
US11486005B2 (en) 2022-11-01
CN110168100A (zh) 2019-08-23
JP2022137019A (ja) 2022-09-21
US20180135128A1 (en) 2018-05-17
EP3541953A4 (en) 2020-04-29
WO2018093723A1 (en) 2018-05-24
CA3044033A1 (en) 2018-05-24
EP3541953A1 (en) 2019-09-25
US20200056240A1 (en) 2020-02-20
BR112019009790A2 (pt) 2019-08-06

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