WO1995017523A3 - Molecular diagnosis of familial adenomatous polyposis - Google Patents

Molecular diagnosis of familial adenomatous polyposis Download PDF

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Publication number
WO1995017523A3
WO1995017523A3 PCT/US1994/013910 US9413910W WO9517523A3 WO 1995017523 A3 WO1995017523 A3 WO 1995017523A3 US 9413910 W US9413910 W US 9413910W WO 9517523 A3 WO9517523 A3 WO 9517523A3
Authority
WO
WIPO (PCT)
Prior art keywords
adenomatous polyposis
familial adenomatous
diagnosis
molecular diagnosis
genetic diseases
Prior art date
Application number
PCT/US1994/013910
Other languages
French (fr)
Other versions
WO1995017523A2 (en
Inventor
Kenneth W Kinzler
Bert Vogelstein
Original Assignee
Univ Johns Hopkins
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 Johns Hopkins filed Critical Univ Johns Hopkins
Priority to AT95905313T priority Critical patent/ATE233824T1/en
Priority to CA002179012A priority patent/CA2179012C/en
Priority to EP95905313A priority patent/EP0734456B1/en
Priority to DE69432225T priority patent/DE69432225T2/en
Priority to JP7517444A priority patent/JPH09506775A/en
Publication of WO1995017523A2 publication Critical patent/WO1995017523A2/en
Publication of WO1995017523A3 publication Critical patent/WO1995017523A3/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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6865—Promoter-based amplification, e.g. nucleic acid sequence amplification [NASBA], self-sustained sequence replication [3SR] or transcription-based amplification system [TAS]
    • 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
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6853—Nucleic acid amplification reactions using modified primers or templates
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6862—Ligase chain reaction [LCR]
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S435/00—Chemistry: molecular biology and microbiology
    • Y10S435/81—Packaged device or kit

Abstract

A two-pronged method for diagnosis of genetic diseases can detect mutations in about 87 % of familial adenomatous polyposis (FAP) patients. One part of the diagnostic method employs in vitro protein synthesis from surrogate genes created by amplifying either cDNA or genomic DNA. The second part of the diagnostic method employs an allele-specific expression assay which distinguishes the amount of mRNA expressed in vivo from each of a patient's two alleles. These approaches are readily applicable to the diagnosis of other genetic diseases.
PCT/US1994/013910 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis WO1995017523A2 (en)

Priority Applications (5)

Application Number Priority Date Filing Date Title
AT95905313T ATE233824T1 (en) 1993-12-15 1994-12-13 MOLECULAR DIAGNOSIS OF FAMILIAR ADENOMATOUS POLYPOSIS
CA002179012A CA2179012C (en) 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis
EP95905313A EP0734456B1 (en) 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis
DE69432225T DE69432225T2 (en) 1993-12-15 1994-12-13 MOLECULAR DIAGNOSIS OF FAMILY ADENOMATOUS POLYPOSIS
JP7517444A JPH09506775A (en) 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US169,303 1993-12-15
US08/169,303 US5709998A (en) 1993-12-15 1993-12-15 Molecular diagnosis of familial adenomatous polyposis

Publications (2)

Publication Number Publication Date
WO1995017523A2 WO1995017523A2 (en) 1995-06-29
WO1995017523A3 true WO1995017523A3 (en) 1995-09-28

Family

ID=22615099

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US1994/013910 WO1995017523A2 (en) 1993-12-15 1994-12-13 Molecular diagnosis of familial adenomatous polyposis

Country Status (7)

Country Link
US (2) US5709998A (en)
EP (1) EP0734456B1 (en)
JP (1) JPH09506775A (en)
AT (1) ATE233824T1 (en)
CA (1) CA2179012C (en)
DE (1) DE69432225T2 (en)
WO (1) WO1995017523A2 (en)

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US5643722A (en) 1994-05-11 1997-07-01 Trustees Of Boston University Methods for the detection and isolation of proteins
US6210941B1 (en) 1997-06-27 2001-04-03 The Trustees Of Boston University Methods for the detection and isolation of proteins
US6020137A (en) * 1996-08-14 2000-02-01 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US6100029A (en) * 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US6203993B1 (en) 1996-08-14 2001-03-20 Exact Science Corp. Methods for the detection of nucleic acids
US5928870A (en) * 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
US6146828A (en) * 1996-08-14 2000-11-14 Exact Laboratories, Inc. Methods for detecting differences in RNA expression levels and uses therefor
US6235474B1 (en) * 1996-12-30 2001-05-22 The Johns Hopkins University Methods and kits for diagnosing and determination of the predisposition for diseases
US5879890A (en) * 1997-01-31 1999-03-09 The Johns Hopkins University APC mutation associated with familial colorectal cancer in Ashkenazi jews
US6368799B1 (en) * 1997-06-13 2002-04-09 Affymetrix, Inc. Method to detect gene polymorphisms and monitor allelic expression employing a probe array
US6406857B1 (en) 1997-06-16 2002-06-18 Exact Sciences Corporation Methods for stool sample preparation
US6268136B1 (en) 1997-06-16 2001-07-31 Exact Science Corporation Methods for stool sample preparation
AUPO926597A0 (en) * 1997-09-17 1997-10-09 University Of Melbourne, The Improved detection method for premature termination mutations
US20020064792A1 (en) * 1997-11-13 2002-05-30 Lincoln Stephen E. Database for storage and analysis of full-length sequences
CA2325823A1 (en) * 1998-04-27 1999-11-04 University Health Network Gene screening methods and related assays
WO2000018958A2 (en) * 1998-09-29 2000-04-06 Government Of The Republic Of Singapore An in vitro activity assay for human hepatits b virus (hbv) dna polymerase, the use of such an assay to assay activity of various serum samples and to screen for inhibitors of the hbv dna polymerase and a method of producing hbv dna polymerase
FR2786787B1 (en) * 1998-12-08 2002-04-19 Proteus METHOD OF IN VITRO ANALYSIS OF A KNOWN PHENOTYPE FROM A SAMPLE OF NUCLEIC ACIDS
US6280947B1 (en) 1999-08-11 2001-08-28 Exact Sciences Corporation Methods for detecting nucleotide insertion or deletion using primer extension
US6503718B2 (en) 1999-01-10 2003-01-07 Exact Sciences Corporation Methods for detecting mutations using primer extension for detecting disease
US7148016B1 (en) 1999-01-14 2006-12-12 Ca*Tx Inc. Immunoassays to detect diseases or disease susceptibility traits
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US7037682B2 (en) 1999-03-13 2006-05-02 Government Of The Republic Of Singapore In vitro activity assay for human hepatitis B virus (HBV) DNA polymerase, and its use for screening for inhibitors of HBV DNA polymerase
ATE331811T1 (en) 1999-04-09 2006-07-15 Exact Sciences Corp METHOD FOR DETECTING NUCLEIC ACIDS INdicative of CANCER
US6653126B1 (en) 1999-06-04 2003-11-25 Massachusetts Insititute Of Technology Compositions and methods for the screening of compounds to enhance or reduce apoptosis
US6306628B1 (en) * 1999-08-25 2001-10-23 Ambergen, Incorporated Methods for the detection, analysis and isolation of Nascent proteins
US6586177B1 (en) * 1999-09-08 2003-07-01 Exact Sciences Corporation Methods for disease detection
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US20030165940A1 (en) * 2001-12-06 2003-09-04 The Johns Hopkins University Disease detection by digital protein truncation assays
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US7927840B2 (en) 2006-09-11 2011-04-19 Gen Probe Incorporated Method for detecting West Nile Virus nucleic acids in the 3′ non-coding region
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Also Published As

Publication number Publication date
DE69432225T2 (en) 2004-02-05
DE69432225D1 (en) 2003-04-10
EP0734456B1 (en) 2003-03-05
US5709998A (en) 1998-01-20
JPH09506775A (en) 1997-07-08
US5760207A (en) 1998-06-02
WO1995017523A2 (en) 1995-06-29
CA2179012A1 (en) 1995-06-29
EP0734456A1 (en) 1996-10-02
ATE233824T1 (en) 2003-03-15
CA2179012C (en) 2006-10-31

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