Hailey-Hailey Disease Maps to a 5 cM Interval on Chromosome 3q21-q24

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14cM region on chromosome 3q. We have further refined the location of the HHD gene by linkage analysis in six HHD families from Germany...

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Published inJournal of investigative dermatology Vol. 105; no. 3; pp. 357 - 360
Main Authors Richard, Gabriela, Korge, Bernhard P., Wright, Andrea R., Mazzanti, Cinzia, Harth, Wolfgang, Annicchiarico-Petruzzelli, Margherita, Compton, John G., Bale, Sherri J.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.09.1995
Subjects
Chromosome Mapping
Chromosomes, Human, Pair 3
epidermis
Familial benign chronic pemphigus
Genetic Linkage
Genetic Markers
genodermatosis
Humans
linkage
Pedigree
Pemphigus, Benign Familial - genetics
genodermatosis
linkage
Familial benign chronic pemphigus
epidermis
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Summary:Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14cM region on chromosome 3q. We have further refined the location of the HHD gene by linkage analysis in six HHD families from Germany and Italy using 11 polymorphic microsatellite markers and found no evidence for genetic heterogeneity. We observed complete cosegregation between HHD and marker D3S1587, with a maximal lod score of 4.54. Detailed haplotype analyses allowed us to narrow the interval containing the HHD locus to 5cM, flanked by D3S1589 and D3S1290.
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ISSN:0022-202X
1523-1747
DOI:10.1111/1523-1747.ep12320741