WO2002036770A3 - Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection - Google Patents

Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection Download PDF

Info

Publication number
WO2002036770A3
WO2002036770A3 PCT/FR2001/003182 FR0103182W WO0236770A3 WO 2002036770 A3 WO2002036770 A3 WO 2002036770A3 FR 0103182 W FR0103182 W FR 0103182W WO 0236770 A3 WO0236770 A3 WO 0236770A3
Authority
WO
WIPO (PCT)
Prior art keywords
abca1
disease
kits
polymorphic
abca1 gene
Prior art date
Application number
PCT/FR2001/003182
Other languages
English (en)
Other versions
WO2002036770A2 (fr
Inventor
Patrice Denefle
Marie-Francoise Rosier
Isabelle Arnould-Reguigne
Nicolas Duverger
Francois Cambien
Original Assignee
Aventis Pharma Sa
Inst Nat Sante Rech Med
Patrice Denefle
Marie-Francoise Rosier
Isabelle Arnould-Reguigne
Nicolas Duverger
Francois Cambien
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 FR0014037A external-priority patent/FR2815970A1/fr
Application filed by Aventis Pharma Sa, Inst Nat Sante Rech Med, Patrice Denefle, Marie-Francoise Rosier, Isabelle Arnould-Reguigne, Nicolas Duverger, Francois Cambien filed Critical Aventis Pharma Sa
Priority to EP01978530A priority Critical patent/EP1356102A2/fr
Priority to JP2002539516A priority patent/JP2004525611A/ja
Priority to AU2002210636A priority patent/AU2002210636A1/en
Priority to CA002427436A priority patent/CA2427436A1/fr
Publication of WO2002036770A2 publication Critical patent/WO2002036770A2/fr
Publication of WO2002036770A3 publication Critical patent/WO2002036770A3/fr

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
    • 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)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)

Abstract

La présente invention a pour objet des acides nucléiques isolés codant pour la protéine transporteur ABCA1 et comportant des variations polymorphes de séquence, ainsi que des polypeptides dérivés du transporteur humain ABCA1 et contenant des acides aminés polymorphes.L'invention a également pour objet des amorces et des sondes spécifiques d'allèle qui s'hybrident à des régions flanquant ou contenant ces sites ou positions polymorphes, des procédés et des kits ou nécessaires permettant d'analyser les écarts d'allélisme affectant le gène ABCA1, et enfin l'utilisation des polymorphismes du gène humain ABCA1 pour le diagnostic, d'une maladie ou d'une prédisposition à une maladie, en particulier liée à la concentration de HDL (High Density Lipoprotein) cholestérol plasmatique, comme par exemple c'est le cas des déficiences familiales en HDL comme la maladie de Tangier, de l'infarctus du myocarde, de l'athérosclérose, et d'autres affections cardiovasculaires.
PCT/FR2001/003182 2000-10-31 2001-10-12 Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection WO2002036770A2 (fr)

Priority Applications (4)

Application Number Priority Date Filing Date Title
EP01978530A EP1356102A2 (fr) 2000-10-31 2001-10-12 Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection.
JP2002539516A JP2004525611A (ja) 2000-10-31 2001-10-12 多型ヒトａｂｃａ１遺伝子の配列、それらの使用、検出方法およびキット
AU2002210636A AU2002210636A1 (en) 2000-10-31 2001-10-12 Polymorphic sequences of the human ABCA1 gene, their uses, detection methods and kits
CA002427436A CA2427436A1 (fr) 2000-10-31 2001-10-12 Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection.

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
FR0014037A FR2815970A1 (fr) 2000-10-31 2000-10-31 Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection
FR0014037 2000-10-31
US25410800P 2000-12-11 2000-12-11
US60/254,108 2000-12-11

Publications (2)

Publication Number Publication Date
WO2002036770A2 WO2002036770A2 (fr) 2002-05-10
WO2002036770A3 true WO2002036770A3 (fr) 2003-09-04

Family

ID=26212711

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/FR2001/003182 WO2002036770A2 (fr) 2000-10-31 2001-10-12 Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection

Country Status (6)

Country Link
US (1) US20030056234A1 (fr)
EP (1) EP1356102A2 (fr)
JP (1) JP2004525611A (fr)
AU (1) AU2002210636A1 (fr)
CA (1) CA2427436A1 (fr)
WO (1) WO2002036770A2 (fr)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002097123A2 (fr) * 2001-05-25 2002-12-05 Xenon Genetics, Inc. Procedes de diagnostic de maladies cardio-vasculaires, faibles niveaux de cholesterol ldl, et niveaux eleves de triglyceride
US20050287559A1 (en) * 2004-05-07 2005-12-29 Applera Corporation Genetic polymorphisms associated with vascular, methods of detection and uses thereof

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000055318A2 (fr) * 1999-03-15 2000-09-21 University Of British Columbia Methodes et reactifs permettant de moduler les taux de cholesterol
WO2000078970A1 (fr) * 1999-06-17 2000-12-28 Aventis Pharma S.A. Acides nucleiques et proteines correspondant au gene abc1 humain
WO2001030848A2 (fr) * 1999-10-26 2001-05-03 Aventis Pharma S.A. Acides nucleiques du gene humain abc1 et leurs utilisations therapeutiques et diagnostiques

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6391589B1 (en) * 1994-08-23 2002-05-21 Human Genome Sciences, Inc. Human chemokine beta-10 mutant polypeptides

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000055318A2 (fr) * 1999-03-15 2000-09-21 University Of British Columbia Methodes et reactifs permettant de moduler les taux de cholesterol
WO2000078970A1 (fr) * 1999-06-17 2000-12-28 Aventis Pharma S.A. Acides nucleiques et proteines correspondant au gene abc1 humain
WO2001030848A2 (fr) * 1999-10-26 2001-05-03 Aventis Pharma S.A. Acides nucleiques du gene humain abc1 et leurs utilisations therapeutiques et diagnostiques

Non-Patent Citations (11)

* Cited by examiner, † Cited by third party
Title
BODZIOCH M ET AL: "THE GENE ENCODING ATP-BINDING CASSETTE TRANSPORTER 1 IS MUTATED IN TANGIER DISEASE", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 347 - 351, XP000889766, ISSN: 1061-4036 *
BROOKS-WILSON A ET AL: "MUTATIONS IN ABC1 IN TANGIER DISEASE AND FAMILIAL HIGH-DENSITY LIPOPROTEIN DEFICIENCY", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 336 - 345, XP000889767, ISSN: 1061-4036 *
LAWN R M ET AL: "THE TANGIER DISEASE GENE PRODUCT ABC1 CONTROLS THE CELLULAR APOLIPOPROTEIN-MEDIATED LIPID REMOVAL PATHWAY", JOURNAL OF CLINICAL INVESTIGATION, NEW YORK, NY, US, vol. 104, no. 8, October 1999 (1999-10-01), pages R25 - R31, XP000884782, ISSN: 0021-9738 *
MARCIL M ET AL: "MUTATIONS IN THE ABC1 GENE IN FAMILIAL HDL DEFICIENCY WITH DEFECTIVE CHOLESTEROL EFFLUX", LANCET THE, LANCET LIMITED. LONDON, GB, vol. 354, no. 9187, 16 October 1999 (1999-10-16), pages 1341 - 1346, XP000877242, ISSN: 0140-6736 *
MOTT STEPHANIE ET AL: "Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: Role of the ABCA1 gene mutations.", ATHEROSCLEROSIS, vol. 152, no. 2, October 2000 (2000-10-01), pages 457 - 468, XP001016219, ISSN: 0021-9150 *
ORSO E ET AL: "TRANSPORT OF LIPIDS FROM GOLGI TO PLASMA MEMBRANE IS DEFECTIVE IN TANGIER DISEASE PATIENTS AND ABC1-DEFICIENT MICE", NATURE GENETICS, NEW YORK, NY, US, vol. 24, no. 2, February 2000 (2000-02-01), pages 192 - 196, XP000889762, ISSN: 1061-4036 *
PULLINGER CLIVE R ET AL: "Analysis of hABC1 gene 5' end: Additional peptide sequence, promoter region, and four polymorphisms.", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 271, no. 2, 10 May 2000 (2000-05-10), pages 451 - 455, XP002176956, ISSN: 0006-291X *
REMALEY A T ET AL: "HUMAN ATP-BINDING CASSETTE TRANSPORTER 1 (ABC1): GENOMIC ORGANIZATION AND IDENTIFICATION OF THE GENETIC DEFECT IN THE ORIGINAL TANGIER DISEASE KINDRED", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 96, no. 22, 26 October 1999 (1999-10-26), pages 12685 - 12690, XP000877247, ISSN: 0027-8424 *
RUST S ET AL: "TANGIER DISEASE IS CAUSED BY MUTATIONS IN THE GENE ENCODING ATP--BINDING CASSETTE TRANSPORTER 1", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 352 - 355, XP000884993, ISSN: 1061-4036 *
SANTAMARINA-FOJO SILVIA ET AL: "Complete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoter.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 97, no. 14, 5 July 2000 (2000-07-05), July 5, 2000, pages 7987 - 7992, XP002176957, ISSN: 0027-8424 *
WANG JIAN ET AL: "Common and rare ABCA1 variants affecting plasma HDL cholesterol.", ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, vol. 20, no. 8, August 2000 (2000-08-01), pages 1983 - 1989, XP002176955, ISSN: 1079-5642 *

Also Published As

Publication number Publication date
WO2002036770A2 (fr) 2002-05-10
US20030056234A1 (en) 2003-03-20
CA2427436A1 (fr) 2002-05-10
AU2002210636A1 (en) 2002-05-15
EP1356102A2 (fr) 2003-10-29
JP2004525611A (ja) 2004-08-26

Similar Documents

Publication Publication Date Title
LIU et al. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders
EP2500440A3 (fr) Polymorphismes génétiques associés à l'infarctus du myocarde, procédés de détection et utilisations associées
WO2001029257A3 (fr) Methodes relatives a une analyse typologique genetique et utilisation de celle-ci
EP0800406A2 (fr) Dispositif et procedes de sterilisation par plasma
CA2289872A1 (fr) Reactions dependant de la cible faisant appel a des oligonucleotides formant des ponts avec des structures
CA2221318A1 (fr) Ligands oligonucleotidiques ayant une affinite elevee pour les facteurs de croissance
CA2294516A1 (fr) Proteines ikk-.beta., acides nucleiques et procedes
WO2001050829A3 (fr) Secretase de la maladie d'alzheimer, substrats app destines a celle-ci et utilisation de cette derniere
Conde et al. Phospholipin, a novel heterodimeric phospholipase A2 from Pandinus imperator scorpion venom
AU6513598A (en) Assaying nucleotides in solution using pna probes
WO2000066771A3 (fr) Sequençage diagnostique par combinaison de clivage specifique et de spectrometrie de masse
DE69808743D1 (en) Netrinrezeptoren
WO2004044163A3 (fr) Procedes pour identifier les risques de melanomes et leurs traitements
Tarragó et al. Identification by 19F NMR of traditional Chinese medicinal plants possessing prolyl oligopeptidase inhibitory activity
ATE245190T1 (de) Robo: eine familie polypeptiden und nukleinesäuren wirksam in nervenzellleitung
CA2294566A1 (fr) Proteines ikk-.alpha., acides nucleiques et procedes
WO2001068913A2 (fr) Procede et systeme de detection d'acides nucleiques
EP1132483A3 (fr) Méthode de diagnostic de la schizophrénie utilisant des indices objectifs
WO2005027710A3 (fr) Procedes d'identification de sujets a risque pour le melanome et traitements correspondants
Dianzani et al. Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
WO2002036770A3 (fr) Sequences polymorphes du gene humain abca1, leurs utilisations, les methodes et kits de detection
Lamontagne et al. Modulation of human saposin B sphingolipid-binding specificity by alternative splicing. A study with saposin B-derived synthetic peptides.
WO2003054167A3 (fr) Identification de sites polymorphes dans le gene humain mglur8 et utilisations associees
CA2261576A1 (fr) Sondes permettant de detecter et d'identifier l'helicobacter pylori
CA2327587A1 (fr) Methodes de traitement de l'hemophilie a au moyen d'anticorps humains anti-facteur viii humain

Legal Events

Date Code Title Description
DFPE Request for preliminary examination filed prior to expiration of 19th month from priority date (pct application filed before 20040101)
121 Ep: the epo has been informed by wipo that ep was designated in this application
WWE Wipo information: entry into national phase

Ref document number: 2002539516

Country of ref document: JP

WWE Wipo information: entry into national phase

Ref document number: 2001978530

Country of ref document: EP

WWE Wipo information: entry into national phase

Ref document number: 2427436

Country of ref document: CA

WWE Wipo information: entry into national phase

Ref document number: 2002210636

Country of ref document: AU

REG Reference to national code

Ref country code: DE

Ref legal event code: 8642

WWP Wipo information: published in national office

Ref document number: 2001978530

Country of ref document: EP

WWW Wipo information: withdrawn in national office

Ref document number: 2001978530

Country of ref document: EP