PAH MUTATION ANALYSIS CONSORTIUM DATABASE - A DATABASE FOR DISEASE-PRODUCING AND OTHER ALLELIC VARIATION AT THE HUMAN PAH LOCUS

The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAN locus. Ascertainment of probands occurs largely through newborn screening for hyperphenyla laninemia. A relational database records allelic variation (disease-pr oducing and polymorphic) at the locus. Information is distributed by N ewsletter, diskette (WINPAHDB software stand-alone executable on IBM c ompatible 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 expansio n; it also has medical relevance.