WO2007077422A3 - Allele-specific sequencing - Google Patents

Allele-specific sequencing Download PDF

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Publication number
WO2007077422A3
WO2007077422A3 PCT/GB2006/004904 GB2006004904W WO2007077422A3 WO 2007077422 A3 WO2007077422 A3 WO 2007077422A3 GB 2006004904 W GB2006004904 W GB 2006004904W WO 2007077422 A3 WO2007077422 A3 WO 2007077422A3
Authority
WO
WIPO (PCT)
Prior art keywords
allele
specific sequencing
gene
snps
sequencing
Prior art date
Application number
PCT/GB2006/004904
Other languages
French (fr)
Other versions
WO2007077422A2 (en
Inventor
David Neil Cooper
Martin Horan
Original Assignee
Univ Cardiff
David Neil Cooper
Martin Horan
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 Cardiff, David Neil Cooper, Martin Horan filed Critical Univ Cardiff
Publication of WO2007077422A2 publication Critical patent/WO2007077422A2/en
Publication of WO2007077422A3 publication Critical patent/WO2007077422A3/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
    • C12Q1/6813—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
    • C12Q1/6858—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
    • C12Q1/6869—Methods for sequencing
    • 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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

The invention relates to a novel method of allele-specific sequencing in any gene which involves the knowledge of the existing SNPs within said gene and, in particular, those SNPs that are phenotypically significant for a given condition.
PCT/GB2006/004904 2006-01-05 2006-12-23 Allele-specific sequencing WO2007077422A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GBGB0600116.8A GB0600116D0 (en) 2006-01-05 2006-01-05 Allele-specific sequencing
GB0600116.8 2006-01-05

Publications (2)

Publication Number Publication Date
WO2007077422A2 WO2007077422A2 (en) 2007-07-12
WO2007077422A3 true WO2007077422A3 (en) 2007-09-27

Family

ID=35911395

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2006/004904 WO2007077422A2 (en) 2006-01-05 2006-12-23 Allele-specific sequencing

Country Status (5)

Country Link
AR (1) AR059132A1 (en)
GB (2) GB0600116D0 (en)
NL (1) NL1033168C2 (en)
TW (1) TW200734639A (en)
WO (1) WO2007077422A2 (en)

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002018659A2 (en) * 2000-08-30 2002-03-07 Haplogen, Llc Method for determining alleles
WO2002079518A1 (en) * 2001-03-29 2002-10-10 Chugai Seiyaku Kabushiki Kaisha A method for genotyping individuals for multiple snps
WO2003042245A2 (en) * 2001-11-12 2003-05-22 University Of Wales College Of Medicine Growth hormone variations in humans and their uses
WO2004057028A1 (en) * 2002-12-19 2004-07-08 University College Cardiff Consultants Limited Haplotype partitioning in the proximal promoter of the human growth hormone (gh1) gene
CN1661051A (en) * 2004-02-25 2005-08-31 复旦大学 Relativity between gene of growth hormone 1 and essential hypertension

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5639611A (en) * 1988-12-12 1997-06-17 City Of Hope Allele specific polymerase chain reaction
WO1999029901A1 (en) * 1997-12-11 1999-06-17 The General Hospital Corporation Broad range pcr amplification techniques
AU2002233540A1 (en) * 2001-02-23 2002-09-12 Pyrosequencing Ab Allele-specific primer extension assay

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002018659A2 (en) * 2000-08-30 2002-03-07 Haplogen, Llc Method for determining alleles
WO2002079518A1 (en) * 2001-03-29 2002-10-10 Chugai Seiyaku Kabushiki Kaisha A method for genotyping individuals for multiple snps
WO2003042245A2 (en) * 2001-11-12 2003-05-22 University Of Wales College Of Medicine Growth hormone variations in humans and their uses
WO2004057028A1 (en) * 2002-12-19 2004-07-08 University College Cardiff Consultants Limited Haplotype partitioning in the proximal promoter of the human growth hormone (gh1) gene
CN1661051A (en) * 2004-02-25 2005-08-31 复旦大学 Relativity between gene of growth hormone 1 and essential hypertension

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
ADKINS R.M. ET AL.,: "association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case -control study", BMC PREGNANCY AND CHILDBIRTH, vol. 5, no. 2, 3 February 2005 (2005-02-03), pages 1 - 7, XP002440410 *
DATABASE WPI Week 200623, Derwent World Patents Index; AN 2006-213610, XP002440429 *
GIORDANO M ET AL: "EVIDENCE FOR GENE CONVERSION IN THE GENERATION OF EXTENSIVE POLYMORPHISM IN THE PROMOTER OF THE GROWTH HORMONE GENE", HUMAN GENETICS, BERLIN, DE, vol. 100, 1997, pages 249 - 255, XP000990217, ISSN: 0340-6717 *
HORAN M. ET AL.,: "genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke", HUM. GENETR., vol. 119, 30 March 2006 (2006-03-30), pages 527 - 540, XP002438470 *
HORAN M. ET AL.,: "human growth hormone 1 (GH1) geneexpression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region", HUM. MUTAT., vol. 21, 2003, pages 408 - 423, XP002440411 *
WAGNER J K ET AL: "ALLELIC VARIATIONS IN THE HUMAN GROWTH HORMONE-1 GENE PROMOTER OF GROWTH HORMONE-DEFICIENT PATIENTS AND NORMAL CONTROLS", EUROPEAN JOURNAL OF ENDOCRINOLOGY, SCANDINAVIAN UNIVERSITY PRESS, NO, vol. 137, 1997, pages 474 - 481, XP000990216, ISSN: 0804-4643 *

Also Published As

Publication number Publication date
GB2433992A (en) 2007-07-11
GB0625889D0 (en) 2007-02-07
GB0600116D0 (en) 2006-02-15
NL1033168A1 (en) 2007-07-09
WO2007077422A2 (en) 2007-07-12
NL1033168C2 (en) 2008-01-08
AR059132A1 (en) 2008-03-12
TW200734639A (en) 2007-09-16

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