CA2403696A1 - Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale - Google Patents

Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale Download PDF

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Publication number
CA2403696A1
CA2403696A1 CA002403696A CA2403696A CA2403696A1 CA 2403696 A1 CA2403696 A1 CA 2403696A1 CA 002403696 A CA002403696 A CA 002403696A CA 2403696 A CA2403696 A CA 2403696A CA 2403696 A1 CA2403696 A1 CA 2403696A1
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CA
Canada
Prior art keywords
familial dysautonomia
nucleic acid
gene
markers
43b1gagt
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.)
Abandoned
Application number
CA002403696A
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English (en)
Inventor
James F. Gusella
Susan Slaugenhaupt
Anat Blumenfeld
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.)
General Hospital Corp
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Individual
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Publication date
Application filed by Individual filed Critical Individual
Publication of CA2403696A1 publication Critical patent/CA2403696A1/fr
Abandoned legal-status Critical Current

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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
    • C12Q2600/156—Polymorphic or mutational markers
    • 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

La dysautonomie familiale (FD) est un trouble autosomique récessif caractérisé par un arrêt du développement des systèmes nerveux sensoriel et végétatif, très présent dans l'ascendance juive ashkénaze. Le gène de la maladie de la dysautonomie familiale (DYS) a précédemment été reconnu comme le segment 11cM du chromosome 9q31-33 flanqué de D9s53 et de D9S105. L'utilisation de nouveaux loci polymorphes permet de réduire l'emplacement du gène à moins de 0,5 cM entre les marqueurs 43B1GAGT et 157A3. Deux marqueurs situés dans cet intervalle, 164D1 et D9S1677, ne présentent aucune recombinaison avec la maladie. L'analyse de l'haplotype confirme cette région candidate. L'identification de ces marqueurs du gène de la maladie de la dysautonomie familiale permet d'obtenir un test génétique précis pour identifier les familles et les porteurs de la dysautonomie familiale.
CA002403696A 2000-03-15 2000-03-15 Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale Abandoned CA2403696A1 (fr)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/US2000/006851 WO2001068917A1 (fr) 2000-03-15 2000-03-15 Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale

Publications (1)

Publication Number Publication Date
CA2403696A1 true CA2403696A1 (fr) 2001-09-20

Family

ID=21741155

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002403696A Abandoned CA2403696A1 (fr) 2000-03-15 2000-03-15 Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale

Country Status (5)

Country Link
EP (1) EP1274860A4 (fr)
AU (1) AU2000237492A1 (fr)
CA (1) CA2403696A1 (fr)
IL (1) IL151769A0 (fr)
WO (1) WO2001068917A1 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002059381A2 (fr) 2001-01-06 2002-08-01 The General Hospital Corporation Gene d'identification d'individus atteints de dysautonomie familiale

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993024657A2 (fr) * 1992-05-29 1993-12-09 The General Hospital Corporation Utilisation de marqueurs genetiques pour diagnostiquer la dysautonomie familiale

Also Published As

Publication number Publication date
WO2001068917A1 (fr) 2001-09-20
IL151769A0 (en) 2003-04-10
AU2000237492A1 (en) 2001-09-24
EP1274860A4 (fr) 2006-02-08
EP1274860A1 (fr) 2003-01-15

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Legal Events

Date Code Title Description
FZDC Discontinued application reinstated
EEER Examination request
FZDE Discontinued