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The PAH mutation analysis consortium database: update 1996

P Nowacki1, S Byck, L Prevost

  • 1The DeBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada.

Nucleic Acids Research
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

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The PAH database stores extensive human genetic variation data, including over 320 mutations and 1200 haplotypes, aiding research into hyperphenylalaninemia and other genetic conditions.

Area of Science:

  • Human Genetics
  • Bioinformatics
  • Medical Genetics

Background:

  • The Phenylalanine Hydroxylase (PAH) gene is crucial for phenylalanine metabolism.
  • Genetic variations in the PAH gene can lead to hyperphenylalaninemia.
  • A centralized database is needed to manage and disseminate PAH genetic variation data.

Purpose of the Study:

  • To establish and maintain a comprehensive online relational database for human PAH gene locus-specific genetic variation.
  • To store and provide access to mutation data, population associations, and genotype-phenotype correlations.
  • To serve as a prototype for the collection and distribution of human genetic variation records.

Main Methods:

  • Development of a relational database accessible via a website (mcgill.ca/pahdb).

Related Experiment Videos

  • Curated collection of intragenic nucleotide variations, including mutations and polymorphic haplotypes.
  • Integration of offline core components with several online accessory files for data visualization and analysis.

    • Main Results:

    • The PAH database contains over 320 different mutations and more than 1200 mutation/haplotype associations.
    • Data includes mutation frequencies by population, genotype-phenotype correlations, and polymorphic haplotype structures.
    • The database features include intron sequence data, mouse homologues, predicted gene mutability, and a clinical interface.

    Conclusions:

    • The PAH database is a valuable resource for studying human genetic variation, particularly in the context of hyperphenylalaninemia.
    • The database facilitates research by providing extensive, curated genetic data and serves as a model for other genetic variation databases.
    • Electronic publication of genetic variation data through such databases significantly surpasses traditional print reports.