FINE MAPPING OF THE DARIERS-DISEASE LOCUS ON CHROMOSOME 12Q

Darier's disease (DD) is an autosomal dominant genodermatosis characte rized by epidermal acantholysis and dyskeratosis. We have performed ge netic linkage studies in 10 families with DD (34 affected) by analyzin g 14 polymorphic microsatellite markers. Our results confirm recent re ports mapping the DD gene to chromosome 12q23-q24.1. Haplotype analysi s of recombinant chromosomes in our families, along with previously, r eported data, narrow the location of the DD gene to a 5 cM interval fl anked by the loci D12S354 and D12S84/D12S105. This localization allowe d exclusion of;two known genes, PLA2A and PAH, as candidate loci for D D. Three other gene loci (PPP1C, PMCH, PMCA1), mapping in 12q21-q24, r emain potential candidates.