PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

AUTOR(ES)

Hoang, L

RESUMO

The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs largely through newborn screening for hyperphenylalaninemia. A relational database records allelic variation (disease-producing and polymorphic) at the locus. Information is distributed by Newsletter, diskette (WINPAHDB software stand-alone executable on IBM compatible hardware), and at a 'real' site on the Worldwide Web (http://www.mcgill.ca/pahdb). The database presently records (Sept. 27, 1995) 248 alleles in 798 different associations (with polymorphic haplotype, geographic region and population) along with additional information. The database, as a record of human genetic diversity, at a particular locus, contributes to the study of human evolution and demic expansion; it also has medical relevance.

Documentos Relacionados

• PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
• The PAH mutation analysis consortium database: update 1996.
• The Soil as a Source of Microorganisms Antagonistic to Disease-Producing Bacteria*1
• Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus.
• Evolution of the mutation rate at a heterotic locus.