WO2001090119A3 - Haplotypes of the aldh5a1 gene - Google Patents

Haplotypes of the aldh5a1 gene Download PDF

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Publication number
WO2001090119A3
WO2001090119A3 PCT/US2001/016558 US0116558W WO0190119A3 WO 2001090119 A3 WO2001090119 A3 WO 2001090119A3 US 0116558 W US0116558 W US 0116558W WO 0190119 A3 WO0190119 A3 WO 0190119A3
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WO
WIPO (PCT)
Prior art keywords
aldh5a1
gene
haplotypes
disclosed
haplotyping
Prior art date
Application number
PCT/US2001/016558
Other languages
French (fr)
Other versions
WO2001090119A2 (en
Inventor
Stefanie E Kliem
Beena Koshy
Debra A Tanguay
Original Assignee
Genaissance Pharmaceuticals
Stefanie E Kliem
Beena Koshy
Debra A Tanguay
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 Genaissance Pharmaceuticals, Stefanie E Kliem, Beena Koshy, Debra A Tanguay filed Critical Genaissance Pharmaceuticals
Priority to AU2001264800A priority Critical patent/AU2001264800A1/en
Publication of WO2001090119A2 publication Critical patent/WO2001090119A2/en
Publication of WO2001090119A3 publication Critical patent/WO2001090119A3/en

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0008—Oxidoreductases (1.) acting on the aldehyde or oxo group of donors (1.2)

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)

Abstract

Novel genetic variants of the Aldehyde Dehydrogenase 5 Family, Member A1 (Succinate-Semialdehyde Dehydrogenase) (ALDH5A1) gene are described. Various genotypes, haplotypes, and haplotype pairs that exist in the general United States population are disclosed for the ALDH5A1 gene. Compositions and methods for haplotyping and/or genotyping the ALDH5A1 gene in an individual are also disclosed. Polynucleotides defined by the sequence the haplotypes disclosed herein are also described.
PCT/US2001/016558 2000-05-19 2001-05-21 Haplotypes of the aldh5a1 gene WO2001090119A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001264800A AU2001264800A1 (en) 2000-05-19 2001-05-21 Haplotypes of the aldh5a1 gene

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US20584900P 2000-05-19 2000-05-19
US60/205,849 2000-05-19

Publications (2)

Publication Number Publication Date
WO2001090119A2 WO2001090119A2 (en) 2001-11-29
WO2001090119A3 true WO2001090119A3 (en) 2002-04-04

Family

ID=22763887

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/016558 WO2001090119A2 (en) 2000-05-19 2001-05-21 Haplotypes of the aldh5a1 gene

Country Status (2)

Country Link
AU (1) AU2001264800A1 (en)
WO (1) WO2001090119A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2023102519A1 (en) * 2021-12-02 2023-06-08 The Children's Medical Center Corporation Gene therapy in succinic semialdehyde dehydrogenase deficiency (ssadhd)

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
CHAMBLISS ET AL.: "Molecular cloning of the mature NAD+-dependent succinic semialdehyde dehydrogenase from rat and human", THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 270, no. 1, January 1995 (1995-01-01), pages 461 - 467, XP002949284 *
DATABASE GENBANK [online] NATIONAL LIBRARY OF MEDICINE, NIH (BETHESDA, MD, USA); 23 November 1999 (1999-11-23), XP002949300, accession no. NCBI Database accession no. AL031230 *

Also Published As

Publication number Publication date
WO2001090119A2 (en) 2001-11-29
AU2001264800A1 (en) 2001-12-03

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