Fine Mapping of the Darier's Disease Locus on Chromosome 12q
- Richard, Gabriele
- Wright, Andrea R
- Harris, Sheryl
- Doyle, Sharon Z
- Korge, Bernhard
- Compton, John G
- Mazzanti, Cinzia
- Tanaka, Toshihiro
- Harth, Wolfgang
- McBride, O Wesley
- Bale, Sherri J
- Digiovanna, John J
Publication date
November 1994
DOI Publisher
The Society for Investigative Dermatology, Inc. Published by Elsevier Inc.Abstract
Darier's disease (DD) is an autosomal dominant genodermatosis characterized by epidermal acantholysis and dyskeratosis. We have performed genetic linkage studies in 10 families with DD (34 affected) by analyzing 14 polymorphic microsatellite markers. Our suits confirm recent reports mapping the DD gene to chromosome 12q23-q24.l. Haplotype analysis of recombinant chromosomes in our families, along with previously reported data, narrow the location of the DD gene to a 5cM interval flanked by the loci D12S354 and D12S84/D12S105. This localization allowed exclusion of two known genes, PLA2A and PAH, as candidate loci for DD. Three other gene loci (PPP1C, PMCH, PMCA1), mapping in 12q21-q24, remain potential candidates
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