WO2000068433A3 - Autism gene - Google Patents

Autism gene Download PDF

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Publication number
WO2000068433A3
WO2000068433A3 PCT/US2000/012385 US0012385W WO0068433A3 WO 2000068433 A3 WO2000068433 A3 WO 2000068433A3 US 0012385 W US0012385 W US 0012385W WO 0068433 A3 WO0068433 A3 WO 0068433A3
Authority
WO
WIPO (PCT)
Prior art keywords
mutation
autism
subject
aadc
dna
Prior art date
Application number
PCT/US2000/012385
Other languages
French (fr)
Other versions
WO2000068433A2 (en
Inventor
Julius Peters
N Sitara Waidyaratne
Original Assignee
Los Angeles Childrens Hospital
Julius Peters
N Sitara Waidyaratne
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 Los Angeles Childrens Hospital, Julius Peters, N Sitara Waidyaratne filed Critical Los Angeles Childrens Hospital
Priority to AU49897/00A priority Critical patent/AU4989700A/en
Publication of WO2000068433A2 publication Critical patent/WO2000068433A2/en
Publication of WO2000068433A3 publication Critical patent/WO2000068433A3/en

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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
    • C12Q1/6876—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
    • C12Q2600/172—Haplotypes

Abstract

A method of screening for autism in a subject comprises detecting the presence or absence of downregulation of expression of active human aromatic L-amino acid decarboxylase (AADC) in said subject, the downregulation of expression indicating said subject is afflicted with or at risk of developing autism. The method may be carried out by detecting the presence or absence of a mutation in the first neuronal exon of the human aromatic L-amino acid decarboxylase (AADC) gene. Subjects may be heterozygous or homozygous for the mutation. The mutation screened for is preferably a deletion mutation, and is most preferably a delta 26-29 deletion mutation. The presence of the mutation indicates that the subject is afflicted with autism or is at increased risk of developing autism. Isolated DNA encoding mammalian, preferably human, AADC, which isolated DNA contains a mutation as described above, is also disclosed, along with vectors containing such DNA and cells containing and expressing such DNA.
PCT/US2000/012385 1999-05-06 2000-05-05 Autism gene WO2000068433A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU49897/00A AU4989700A (en) 1999-05-06 2000-05-05 Autism gene

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US13284599P 1999-05-06 1999-05-06
US60/132,845 1999-05-06
US15008799P 1999-08-20 1999-08-20
US60/150,087 1999-08-20

Publications (2)

Publication Number Publication Date
WO2000068433A2 WO2000068433A2 (en) 2000-11-16
WO2000068433A3 true WO2000068433A3 (en) 2002-02-07

Family

ID=26830795

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/012385 WO2000068433A2 (en) 1999-05-06 2000-05-05 Autism gene

Country Status (2)

Country Link
AU (1) AU4989700A (en)
WO (1) WO2000068433A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1656458B1 (en) * 2003-08-22 2009-05-20 Integragen Human autism susceptibility gene and uses thereof

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1998052593A1 (en) * 1997-05-19 1998-11-26 Repligen Corporation Method for assisting in differential diagnosis and treatment of autistic syndromes
WO1998058082A1 (en) * 1997-06-17 1998-12-23 University Of Rochester Genetic polymorphisms which are associated with autism spectrum disorders

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1998052593A1 (en) * 1997-05-19 1998-11-26 Repligen Corporation Method for assisting in differential diagnosis and treatment of autistic syndromes
WO1998058082A1 (en) * 1997-06-17 1998-12-23 University Of Rochester Genetic polymorphisms which are associated with autism spectrum disorders

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
DATABASE BIOSIS [online] BIOSCIENCES INFORMATION SERVICE, PHILADELPHIA, PA, US; July 1998 (1998-07-01), CHANG Y T ET AL: "Mutations in the human aromatic L-amino acid decarboxylase gene.", XP002181079, Database accession no. PREV199800425950 *
JOURNAL OF INHERITED METABOLIC DISEASE, vol. 21, no. SUPPL. 2, July 1998 (1998-07-01), 36th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism;York, England, UK; September 1-4, 1998, pages 4, ISSN: 0141-8955 *
MARGOLIS RUSSELL L ET AL: "CDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: Expression, chromosomal localization and analysis of a highly polymorphic (CAG)-n trinucleotide repeat.", HUMAN MOLECULAR GENETICS, vol. 5, no. 5, 1996, pages 607 - 616, XP002912374, ISSN: 0964-6906 *
TEMPEL B L ET AL: "MUTATIONS IN THE DOPA DECARBOXYLASE GENE AFFECT LEARNING IN DROSOPHILA", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 81, no. 11, 1984, 1984, pages 3577 - 3581, XP002181110, ISSN: 0027-8424 *

Also Published As

Publication number Publication date
WO2000068433A2 (en) 2000-11-16
AU4989700A (en) 2000-11-21

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