WO2001021833A3 - Assay for detection of human cftr allele variants using specific diagnostic primers - Google Patents

Assay for detection of human cftr allele variants using specific diagnostic primers Download PDF

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Publication number
WO2001021833A3
WO2001021833A3 PCT/GB2000/003597 GB0003597W WO0121833A3 WO 2001021833 A3 WO2001021833 A3 WO 2001021833A3 GB 0003597 W GB0003597 W GB 0003597W WO 0121833 A3 WO0121833 A3 WO 0121833A3
Authority
WO
WIPO (PCT)
Prior art keywords
primer
variant
diagnostic
detection
human cftr
Prior art date
Application number
PCT/GB2000/003597
Other languages
French (fr)
Other versions
WO2001021833A2 (en
Inventor
Andrew Iain Bayliffe
Eelco Docter
Stephen James Kelly
Nancy Hastings Robertson
Original Assignee
Astrazeneca Ab
Astrazeneca Uk Ltd
Andrew Iain Bayliffe
Eelco Docter
Stephen James Kelly
Nancy Hastings Robertson
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 Astrazeneca Ab, Astrazeneca Uk Ltd, Andrew Iain Bayliffe, Eelco Docter, Stephen James Kelly, Nancy Hastings Robertson filed Critical Astrazeneca Ab
Priority to CA002385920A priority Critical patent/CA2385920A1/en
Priority to EP00960854A priority patent/EP1242619A2/en
Priority to AU73022/00A priority patent/AU7302200A/en
Publication of WO2001021833A2 publication Critical patent/WO2001021833A2/en
Publication of WO2001021833A3 publication Critical patent/WO2001021833A3/en

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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
    • 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
    • C12Q2600/172—Haplotypes

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  • 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

A diagnostic method for the detection of the 5T, 7T and 9T alleles in intron (8) of the human CFTR gene which method comprises contacting a test sample of nucleic acid from an individual with a multiplex of diagnostic primers comprising (i) 5T variant primer 5'(N)nAAAGAC3', (ii) 7T variant primer 5'(N*)n*(N)nAAAAGC3' and (iii) 9T variant primer 5'(N*)n*(N)nAAAATC3', wherein N represents additional nucleotides which base pair with the corresponding genomic sequence in the respective allele and n is an integer between 10 and 30 and N* represents additional non-homologous nucleotides which do not base pair with the corresponding genomic sequence in the respective allele and n* is an integer between 5 and 60, in the presence of appropriate nucleotide triphosphates and an agent for polymerisation, such that a diagnostic primer is extended only when the corresponding allelic variant is present in the sample; and detecting the presence or absence of the allelic variant by reference to the presence or absence of a diagnostic primer extension product.
PCT/GB2000/003597 1999-09-24 2000-09-19 Assay for detection of human cftr allele variants using specific diagnostic primers WO2001021833A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
CA002385920A CA2385920A1 (en) 1999-09-24 2000-09-19 Assay
EP00960854A EP1242619A2 (en) 1999-09-24 2000-09-19 Assay for detection of human cftr allele variants using specific diagnostic primers
AU73022/00A AU7302200A (en) 1999-09-24 2000-09-19 Assay

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GBGB9922527.8A GB9922527D0 (en) 1999-09-24 1999-09-24 Assay
GB9922527.8 1999-09-24

Publications (2)

Publication Number Publication Date
WO2001021833A2 WO2001021833A2 (en) 2001-03-29
WO2001021833A3 true WO2001021833A3 (en) 2002-07-25

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2000/003597 WO2001021833A2 (en) 1999-09-24 2000-09-19 Assay for detection of human cftr allele variants using specific diagnostic primers

Country Status (5)

Country Link
EP (1) EP1242619A2 (en)
AU (1) AU7302200A (en)
CA (1) CA2385920A1 (en)
GB (1) GB9922527D0 (en)
WO (1) WO2001021833A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2009545314A (en) * 2006-08-03 2009-12-24 ナショナル ユニヴァーシティー オブ シンガポール Nucleic acid multiplex analysis method

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0497527A1 (en) * 1991-01-31 1992-08-05 Zeneca Limited Detection method for nucleotide sequences
WO1993018177A1 (en) * 1992-03-13 1993-09-16 The Children's Hospital Of Philadelphia Diagnosis of cystic fibrosis using allele specific multiplex polymerase chain reactions
WO1997042345A1 (en) * 1996-05-04 1997-11-13 Zeneca Limited Method for detecting a nucleic acid base sequence
US5853989A (en) * 1991-08-27 1998-12-29 Zeneca Limited Method of characterisation of genomic DNA
EP0928832A2 (en) * 1998-01-13 1999-07-14 Zeneca Limited Cystic fibrosis test based on the detection of mutations in the CFRE gene by ARMS

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0497527A1 (en) * 1991-01-31 1992-08-05 Zeneca Limited Detection method for nucleotide sequences
US5853989A (en) * 1991-08-27 1998-12-29 Zeneca Limited Method of characterisation of genomic DNA
WO1993018177A1 (en) * 1992-03-13 1993-09-16 The Children's Hospital Of Philadelphia Diagnosis of cystic fibrosis using allele specific multiplex polymerase chain reactions
WO1997042345A1 (en) * 1996-05-04 1997-11-13 Zeneca Limited Method for detecting a nucleic acid base sequence
EP0928832A2 (en) * 1998-01-13 1999-07-14 Zeneca Limited Cystic fibrosis test based on the detection of mutations in the CFRE gene by ARMS

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
BRAUN A ET AL: "DETECTING CFTR GENE MUTATIONS BY USING PRIMER OLIGO BASE EXTENSION AND MASS SPECTROMETRY", CLINICAL CHEMISTRY, AMERICAN ASSOCIATION FOR CLINICAL CHEMISTRY. WINSTON, US, vol. 43, no. 7, 1997, pages 1151 - 1158, XP001019094, ISSN: 0009-9147 *
COHEN J ET AL: "Relation between mutations of the Cystic Fibrosis Gene and idiopathic pancreatitis", THE NEW ENGLAND JOURNAL OF MEDICINE, vol. 339, no. 10, September 1998 (1998-09-01), pages 653 - 58, XP001053192 *
FRIEDMAM K ET AL: "Cystic fibrosis syndrome: A new paradigm for inherited disorders and implications for molecular diagnosis", CLINICAL CHEMISTRY, vol. 45, no. 7, 1999, pages 92931, XP002188789 *
FRIEDMAN K ET AL: "Rapid characterization of the variable length Polythymidine Tract in the Cystic Fibrosis gene (CFTR)", HUMAN MUTATION, vol. 10, no. 2, 1997, pages 108 - 15, XP001053200 *
GELFI C ET AL: "Rapid capillary zone electrophoresis in isoelectric histidine buffer: high resolution of the poly-T tract allelic variants in intron 8 of the CFTR gene", CLINICAL CHEMISTRY, vol. 44, no. 5, 1998, pages 906 - 13, XP002188788 *
HABER P ET AL: "Alcoholic Pancreatitis and polymorphisms of the variable length tract in the cystic fibrosis gene", ALCOHOLISM: CLINICAL AND EXPERIMENTAL RESEARCH, vol. 23, no. 3, March 1999 (1999-03-01), pages 509 - 12, XP001053196 *
MAK V ET AL: "Proportion of cystic fibrosis gene mutations not detected by routine testing in men with Obstructive Azoospermia", JAMA, vol. 281, no. 23, June 1999 (1999-06-01), pages 2217 - 24, XP001053208 *
SHARER N ET AL: "Mutations of the cystic fibrosis gene in patients with chronic pancreatitis", THE NEW JOURNAL OF ENGLAND MEDICINE, vol. 339, no. 10, 3 September 1998 (1998-09-03), pages 645 - 52, XP001053194 *

Also Published As

Publication number Publication date
GB9922527D0 (en) 1999-11-24
AU7302200A (en) 2001-04-24
CA2385920A1 (en) 2001-03-29
WO2001021833A2 (en) 2001-03-29
EP1242619A2 (en) 2002-09-25

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