Fine mapping of the Darier's disease locus on chromosome 12q. - Suppr | 超能文献

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

作者信息

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

机构信息

Genetic Studies Section, Laboratory of Skin Biology, NIAMS, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

J Invest Dermatol. 1994 Nov;103(5):665-8. doi: 10.1111/1523-1747.ep12398429.

DOI:10.1111/1523-1747.ep12398429

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.

摘要

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