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WO2001018245A3 - Detection des alterations dans un gene par amplification pcr longue portee a l'aide d'elements mobiles humains - Google Patents

Detection des alterations dans un gene par amplification pcr longue portee a l'aide d'elements mobiles humains Download PDF

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Publication number
WO2001018245A3
WO2001018245A3 PCT/IB2000/001283 IB0001283W WO0118245A3 WO 2001018245 A3 WO2001018245 A3 WO 2001018245A3 IB 0001283 W IB0001283 W IB 0001283W WO 0118245 A3 WO0118245 A3 WO 0118245A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene
alteration
interest
test sample
genomic dna
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
PCT/IB2000/001283
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English (en)
Other versions
WO2001018245A2 (fr
Inventor
Struan Grant
Thorarinn Blondal
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Decode Genetics ehf
Original Assignee
Decode Genetics ehf
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
Priority claimed from US09/470,673 external-priority patent/US6225093B1/en
Priority to EP00954856A priority Critical patent/EP1214449A2/fr
Priority to BR0014017-1A priority patent/BR0014017A/pt
Priority to JP2001521779A priority patent/JP2003508082A/ja
Priority to CA002383857A priority patent/CA2383857A1/fr
Priority to NZ517641A priority patent/NZ517641A/en
Application filed by Decode Genetics ehf filed Critical Decode Genetics ehf
Priority to AU67207/00A priority patent/AU6720700A/en
Priority to MXPA02002507A priority patent/MXPA02002507A/es
Publication of WO2001018245A2 publication Critical patent/WO2001018245A2/fr
Anticipated expiration legal-status Critical
Publication of WO2001018245A3 publication Critical patent/WO2001018245A3/fr
Ceased legal-status Critical Current

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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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/686—Polymerase chain reaction [PCR]
    • 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
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • 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)
  • Organic Chemistry (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Cette invention se rapporte à des procédés servant à détecter une altération dans un gène d'intérêt, par exemple une délétion dans le gène C4A (notamment pour détecter C4AQ0), en effectuant une amplification du type réaction en chaîne de polymérase (PCR) longue portée sur un échantillon test comprenant un ADN génomique. Ces procédés amplifient un ADN cible comprenant la totalité ou une partie d'un élément mobile humain (par exemple un insert rétro-viral dans l'intron 9 du gène C4A) en utilisant des amorces conçues pour que les produits PCR soient formés uniquement si l'échantillon test comprend un ADN génomique comportant l'altération dans le gène d'intérêt; dans une variante, ces procédés amplifient l'ADN cible en utilisant des amorces conçues pour que les produits PCR soient formés uniquement si l'échantillon test comprend un ADN génomique qui ne comporte pas l'altération dans le gène d'intérêt. Dans une variante, les amorces sont conçues pour que les produits PCR aient des tailles différentes détectables, selon que l'échantillon test comprend ou ne comprend pas un ADN génomique comportant l'altération dans le gène d'intérêt. Ces procédés peuvent servir à identifier si un individu présente des risques de développer une maladie ou un état associé à l'altération dans le gène d'intérêt, dès lors que la présence de cette altération est à mettre en corrélation avec le risque de développer ladite maladie.
PCT/IB2000/001283 1999-09-07 2000-09-06 Detection des alterations dans un gene par amplification pcr longue portee a l'aide d'elements mobiles humains Ceased WO2001018245A2 (fr)

Priority Applications (7)

Application Number Priority Date Filing Date Title
MXPA02002507A MXPA02002507A (es) 1999-09-07 2000-09-06 Deteccion de alteraciones en un gen por pcr de largo alcance mediante el uso de elementos moviles humanos.
BR0014017-1A BR0014017A (pt) 1999-09-07 2000-09-06 Método para detectar alterações em um gene através de pcr de ampla abrangência usando elementos humanos móveis
JP2001521779A JP2003508082A (ja) 1999-09-07 2000-09-06 ヒト可動性因子を使用する長領域ｐｃｒによる遺伝子における変更の検出
CA002383857A CA2383857A1 (fr) 1999-09-07 2000-09-06 Detection des alterations dans un gene par amplification pcr longue portee a l'aide d'elements mobiles humains
NZ517641A NZ517641A (en) 1999-09-07 2000-09-06 Detection of alterations in a gene by long range PCR using human mobile elements
EP00954856A EP1214449A2 (fr) 1999-09-07 2000-09-06 Detection des alterations dans un gene par amplification pcr longue portee a l'aide d'elements mobiles humains
AU67207/00A AU6720700A (en) 1999-09-07 2000-09-06 Detection of alterations in a gene by long range pcr using human mobile elements

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US39124499A 1999-09-07 1999-09-07
US09/391,244 1999-09-07
US44353999A 1999-11-19 1999-11-19
US09/443,539 1999-11-19
US47159899A 1999-12-23 1999-12-23
US09/470,673 1999-12-23
US09/471,598 1999-12-23
US09/470,673 US6225093B1 (en) 1999-09-07 1999-12-23 Detection of C4A deletion by long range PCR

Publications (2)

Publication Number Publication Date
WO2001018245A2 WO2001018245A2 (fr) 2001-03-15
WO2001018245A3 true WO2001018245A3 (fr) 2002-04-18

Family

ID=27503328

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2000/001283 Ceased WO2001018245A2 (fr) 1999-09-07 2000-09-06 Detection des alterations dans un gene par amplification pcr longue portee a l'aide d'elements mobiles humains

Country Status (9)

Country Link
EP (1) EP1214449A2 (fr)
JP (1) JP2003508082A (fr)
CN (1) CN1382221A (fr)
AU (1) AU6720700A (fr)
BR (1) BR0014017A (fr)
CA (1) CA2383857A1 (fr)
MX (1) MXPA02002507A (fr)
NZ (1) NZ517641A (fr)
WO (1) WO2001018245A2 (fr)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002062197A2 (fr) * 2000-12-19 2002-08-15 Hospital For Special Surgery Marqueurs de predisposition pour des maladies et cibles pour therapie
TWI340168B (en) 2003-05-07 2011-04-11 Tosoh Corp Method of detecting micrometastasis
EP2397561B1 (fr) 2010-06-18 2017-08-02 Progenika Biopharma, S.A. Procédés pour déterminer la présence ou l'absence de segments génétiques
ES2833299T3 (es) 2014-02-04 2021-06-14 Jumpcode Genomics Inc Fraccionamiento del genoma
EP3943615A1 (fr) * 2014-02-27 2022-01-26 Jumpcode Genomics, Inc. Procédés pour l'analyse d'éléments mobiles somatiques, et leurs utilisations
US10968536B2 (en) 2015-02-25 2021-04-06 Jumpcode Genomics, Inc. Methods and compositions for sequencing
US11339427B2 (en) 2016-02-12 2022-05-24 Jumpcode Genomics, Inc. Method for target specific RNA transcription of DNA sequences
CN113820499B (zh) * 2021-10-26 2024-06-25 深圳临研医学有限公司 用于诊断系统性红斑狼疮的蛋白标志物

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5096557A (en) * 1990-07-11 1992-03-17 Genetype A.G. Internal standard for electrophoretic separations

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5096557A (en) * 1990-07-11 1992-03-17 Genetype A.G. Internal standard for electrophoretic separations

Non-Patent Citations (10)

* Cited by examiner, † Cited by third party
Title
BARBA G M R ET AL: "A new PCR-based typing of the Rodgers and Chido antigenic determinants of the fourth component of human complement.", EUROPEAN JOURNAL OF IMMUNOGENETICS, vol. 21, no. 5, 1994, pages 325 - 339, XP001052889, ISSN: 0960-7420 *
BRUNSBERG ULRICA ET AL: "Structure and organization of pig MHC class II DRB genes: Evidence for genetic exchange between loci.", IMMUNOGENETICS, vol. 44, no. 1, 1996, pages 1 - 8, XP002188283, ISSN: 0093-7711 *
CHENG S ET AL: "EFFECTIVE AMPLIFICATION OF LONG TARGETS FROM CLONED INSERTS AND HUMAN GENOMIC DNA", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 91, no. 12, June 1994 (1994-06-01), pages 5695 - 5699, XP000982285, ISSN: 0027-8424 *
CHU XIAOLAN ET AL: "Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration.", EXPERIMENTAL AND CLINICAL IMMUNOGENETICS, vol. 12, no. 2, 1995, pages 74 - 81, XP001052890, ISSN: 0254-9670 *
DANGEL ANDREW W ET AL: "Complement component C4 gene intron 9 as a phylogenetic marker for primates: long terminal repeats of the endogenous retrovirus ERV-K(C4) are a molecular clock of evolution.", IMMUNOGENETICS, vol. 42, no. 1, 1995, pages 41 - 52, XP001053153, ISSN: 0093-7711 *
DANGEL ANDREW W ET AL: "The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates.", IMMUNOGENETICS, vol. 40, no. 6, 1994, pages 425 - 436, XP001053138, ISSN: 0093-7711 *
GOODMAN S ET AL: "RECOMBINANT ADENO-ASSOCIATED VIRUS-MEDIATED GENE TRANSFER INTO HEMATOPOIETIC PROGENITOR CELLS", BLOOD, W.B. SAUNDERS, PHILADELPHIA, VA, US, vol. 84, no. 5, 1 September 1994 (1994-09-01), pages 1492 - 1500, XP000609220, ISSN: 0006-4971 *
See also references of EP1214449A2 *
TANG J Q ET AL: "ALU-PCR COMBINED WITH NON-ALU PRIMERS REVEALS MULTIPLE POLYMORPHIC LOCI", MAMMALIAN GENOME, NEW YORK, NY, US, vol. 6, no. 5, 1995, pages 345 - 349, XP000607150, ISSN: 0938-8990 *
ULGIATI D ET AL: "COMPARATIVEANALYSIS OF THE DISEASE-ASSOCIATED COMPLEMENT C4 GENE FROM THE HLA-A1, B8, DR3 HAPLOTYPE", EXPERIMENTAL AND CLINICAL IMMUNOGENETICS, S.KARGER, BASEL, CH, vol. 13, no. 1, 1996, pages 43 - 54, XP001001407, ISSN: 0254-9670 *

Also Published As

Publication number Publication date
JP2003508082A (ja) 2003-03-04
BR0014017A (pt) 2002-12-31
MXPA02002507A (es) 2004-09-10
CN1382221A (zh) 2002-11-27
CA2383857A1 (fr) 2001-03-15
WO2001018245A2 (fr) 2001-03-15
NZ517641A (en) 2004-02-27
EP1214449A2 (fr) 2002-06-19
AU6720700A (en) 2001-04-10

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