WO2005108611A3 - Methods and compositions for the amplification of mutations in the diagnosis of cystic fibrosis - Google Patents

Methods and compositions for the amplification of mutations in the diagnosis of cystic fibrosis Download PDF

Info

Publication number
WO2005108611A3
WO2005108611A3 PCT/US2004/029439 US2004029439W WO2005108611A3 WO 2005108611 A3 WO2005108611 A3 WO 2005108611A3 US 2004029439 W US2004029439 W US 2004029439W WO 2005108611 A3 WO2005108611 A3 WO 2005108611A3
Authority
WO
WIPO (PCT)
Prior art keywords
cystic fibrosis
mutations
diagnosis
amplification
compositions
Prior art date
Application number
PCT/US2004/029439
Other languages
French (fr)
Other versions
WO2005108611A2 (en
Inventor
Douglas H Huang
Feras Hantash
Ronald M Kagan
Original Assignee
Quest Diagnostics Invest Inc
Douglas H Huang
Feras Hantash
Ronald M Kagan
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 Inc, Douglas H Huang, Feras Hantash, Ronald M Kagan filed Critical Quest Diagnostics Invest Inc
Publication of WO2005108611A2 publication Critical patent/WO2005108611A2/en
Publication of WO2005108611A3 publication Critical patent/WO2005108611A3/en

Links

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
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/04—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4712—Cystic fibrosis
    • 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)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pulmonology (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

The present invention provides nucleic acid primers for amplifying DNA sequences of normal and mutant cystic fibrosis (CF) genes. These primers enable the construction of assays that use the amplified CF genes to detect of the presence of normal or mutant CF sequence, thereby enabling the detection of the genotype of cystic fibrosis in a biological sample. Various pairs of primers suitable for amplifying different CFTR gene segments are provided which are suitable for use in a multiplex amplification format.
PCT/US2004/029439 2003-09-09 2004-09-09 Methods and compositions for the amplification of mutations in the diagnosis of cystic fibrosis WO2005108611A2 (en)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US65958203A 2003-09-09 2003-09-09
US10/659,582 2003-09-09
US10/775,650 2004-02-09
US10/775,650 US20050059035A1 (en) 2003-09-09 2004-02-09 Methods and compositions for the amplification of mutations in the diagnosis of cystic fibrosis

Publications (2)

Publication Number Publication Date
WO2005108611A2 WO2005108611A2 (en) 2005-11-17
WO2005108611A3 true WO2005108611A3 (en) 2006-05-18

Family

ID=35320805

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2004/029439 WO2005108611A2 (en) 2003-09-09 2004-09-09 Methods and compositions for the amplification of mutations in the diagnosis of cystic fibrosis

Country Status (2)

Country Link
US (1) US20050059035A1 (en)
WO (1) WO2005108611A2 (en)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100074949A1 (en) 2008-08-13 2010-03-25 William Rowe Pharmaceutical composition and administration thereof
US20060057766A1 (en) * 2003-07-08 2006-03-16 Quanxi Jia Method for preparation of semiconductive films
LT2489659T (en) 2004-06-24 2018-03-26 Vertex Pharmaceuticals Incorporated Modulators of ATP-binding cassette transporters
US7838646B2 (en) * 2005-08-18 2010-11-23 Quest Diagnostics Investments Incorporated Cystic fibrosis transmembrane conductance regulator gene mutations
RS60205B1 (en) 2005-12-28 2020-06-30 Vertex Pharma Pharmaceutical compositions of the amorphous form of n-[2,4-bis(1,1-dimethylethyl)-5-hydroxyphenyl]-1,4-dihydro-4-oxoquinoline-3-carboxamide
US7794937B2 (en) 2006-12-22 2010-09-14 Quest Diagnostics Investments Incorporated Cystic fibrosis transmembrane conductance regulator gene mutations
LT2821400T (en) 2009-03-20 2018-02-12 Vertex Pharmaceuticals Incorporated Process for making modulators of cystic fibrosis transmembrane conductance regulator
NZ603386A (en) * 2010-05-20 2015-02-27 Vertex Pharma Pharmaceutical compositions and administrations thereof
CN109966264A (en) 2012-02-27 2019-07-05 沃泰克斯药物股份有限公司 Pharmaceutical composition and its application
EP4324936A2 (en) * 2013-03-14 2024-02-21 Quest Diagnostics Investments Incorporated Method for detecting cystic fibrosis
KR20170063954A (en) 2014-10-07 2017-06-08 버텍스 파마슈티칼스 인코포레이티드 Co-crystals of modulators of cystic fibrosis transmembrane conductance regulator

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6818404B2 (en) * 1997-10-23 2004-11-16 Exact Sciences Corporation Methods for detecting hypermethylated nucleic acid in heterogeneous biological samples

Family Cites Families (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4582788A (en) * 1982-01-22 1986-04-15 Cetus Corporation HLA typing method and cDNA probes used therein
US4683194A (en) * 1984-05-29 1987-07-28 Cetus Corporation Method for detection of polymorphic restriction sites and nucleic acid sequences
US6060237A (en) * 1985-02-26 2000-05-09 Biostar, Inc. Devices and methods for optical detection of nucleic acid hybridization
US4683202A (en) * 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
US4998617A (en) * 1986-09-15 1991-03-12 Laura Lupton Inc Facial cosmetic liquid make up kit
US5130238A (en) * 1988-06-24 1992-07-14 Cangene Corporation Enhanced nucleic acid amplification process
US6406844B1 (en) * 1989-06-07 2002-06-18 Affymetrix, Inc. Very large scale immobilized polymer synthesis
US6416952B1 (en) * 1989-06-07 2002-07-09 Affymetrix, Inc. Photolithographic and other means for manufacturing arrays
AU7060591A (en) * 1990-01-12 1991-08-05 Hsc Research Development Corporation Introns and exons of the cystic fibrosis gene and mutations at various positions of the gene
US5846710A (en) * 1990-11-02 1998-12-08 St. Louis University Method for the detection of genetic diseases and gene sequence variations by single nucleotide primer extension
US5955377A (en) * 1991-02-11 1999-09-21 Biostar, Inc. Methods and kits for the amplification of thin film based assays
US5888819A (en) * 1991-03-05 1999-03-30 Molecular Tool, Inc. Method for determining nucleotide identity through primer extension
US5169766A (en) * 1991-06-14 1992-12-08 Life Technologies, Inc. Amplification of nucleic acid molecules
US5885775A (en) * 1996-10-04 1999-03-23 Perseptive Biosystems, Inc. Methods for determining sequences information in polynucleotides using mass spectrometry
KR100229546B1 (en) * 1997-04-11 1999-11-15 전주범 Method and apparatus for coding contour of video signals
JP3944996B2 (en) * 1998-03-05 2007-07-18 株式会社日立製作所 DNA probe array

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6818404B2 (en) * 1997-10-23 2004-11-16 Exact Sciences Corporation Methods for detecting hypermethylated nucleic acid in heterogeneous biological samples

Also Published As

Publication number Publication date
WO2005108611A2 (en) 2005-11-17
US20050059035A1 (en) 2005-03-17

Similar Documents

Publication Publication Date Title
WO2004053105A3 (en) Direct SNP detection with unamplified DNA
WO2007106534A3 (en) Selective amplification of minority mutations using primer blocking high-affinity oligonucleotides
WO2005042759A3 (en) Expression profiling using microarrays
WO2005003304A3 (en) Methods and compositions for whole genome amplification and genotyping
WO2010083250A3 (en) Single-cell nucleic acid analysis
WO2002057491A3 (en) Direct multiplex characterization of genomic dna
WO2003033722A3 (en) Nucleic acid amplification methods
WO2008122002A3 (en) Organism identification panel
WO2002072773A3 (en) Methods and compositions for amplification of rna sequences
WO2008104794A3 (en) Nucleic acid detection
WO2006063065A3 (en) Detection of nucleic acids from multiple types of human papillomaviruses
WO2006026388A3 (en) Single-primer nucleic acid amplification methods
WO2002052031A3 (en) Nucleic acid amplification
WO2005108611A3 (en) Methods and compositions for the amplification of mutations in the diagnosis of cystic fibrosis
WO2008018859A3 (en) Diagnostic kit for determining genotypes of a human papilloma virus and method of using thereof
WO2007014305A3 (en) Assays for resistance to echinocandin-class drugs
WO2008001376A3 (en) Detection of analytes in a medium
CA2476892A1 (en) Mononucleotide repeats microsatellite markers for detecting microsatellite instability
WO2005001142A3 (en) Methods and nucleic acids for the analysis of colorectal cell proliferative disorders
WO2003052135A3 (en) Method and nucleic acids for the analysis of a lung cell proliferative disorder
WO2005100611A3 (en) Detection of viral nucleic acid and method for reverse transcribing rna
WO2009061640A3 (en) Hepatitis b virus (hbv) specific oligonucleotide sequences
WO2003014388A3 (en) Method and nucleic acids for the analysis of colon cancer
WO2004104211A3 (en) Method for detecting toxic and non-toxic cyanobacteria
JP2008504825A5 (en)

Legal Events

Date Code Title Description
AK Designated states

Kind code of ref document: A2

Designated state(s): AE AG AL AM AT AU AZ BA BB BG BR BW BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE EG ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KP KR KZ LC LK LR LS LT LU LV MA MD MG MK MN MW MX MZ NA NI NO NZ OM PG PH PL PT RO RU SC SD SE SG SK SL SY TJ TM TN TR TT TZ UA UG US UZ VC VN YU ZA ZM ZW

AL Designated countries for regional patents

Kind code of ref document: A2

Designated state(s): BW GH GM KE LS MW MZ NA SD SL SZ TZ UG ZM ZW AM AZ BY KG KZ MD RU TJ TM AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IT LU MC NL PL PT RO SE SI SK TR BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

121 Ep: the epo has been informed by wipo that ep was designated in this application
122 Ep: pct application non-entry in european phase