Fine mapping of the Darier's disease locus on chromosome 12q

Gabriele Richard, Andrea R. Wright, Sheryl Harris, Sharon Z. Doyle, Bernhard Korge, Cinzia Mazzanti, Toshihiro Tanaka, Wolfgang Harth, O. Wesley McBride, John G. Compton, Sherri J. Bale, John J. DiGiovanna

Research output: Contribution to journalArticle

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 results confirm recent reports mapping the DD gene to chromosome 12q23-q24.1. Haplotype analysis of recombinant chromosomes in our families, along with previously reported data, narrow the location of the DD gene to a 5 cM 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.

Original languageEnglish
Pages (from-to)665-668
Number of pages4
JournalJournal of Investigative Dermatology
Volume103
Issue number5
Publication statusPublished - Nov 1994

Keywords

  • epidermis
  • genodermatosis
  • keratosis follicularis
  • linkage

ASJC Scopus subject areas

  • Dermatology

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    Richard, G., Wright, A. R., Harris, S., Doyle, S. Z., Korge, B., Mazzanti, C., Tanaka, T., Harth, W., McBride, O. W., Compton, J. G., Bale, S. J., & DiGiovanna, J. J. (1994). Fine mapping of the Darier's disease locus on chromosome 12q. Journal of Investigative Dermatology, 103(5), 665-668.