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

Richard, Gabriela; Korge, Bernhard P.; Wright, Andrea R.; Mazzanti, Cinzia; Harth, Wolfgang; Annicchiarico-Petruzzelli, Margherita; Compton, John G.; Bale, Sherri J.
September 1995
Journal of Investigative Dermatology;Sep95, Vol. 105 Issue 3, p357
Academic Journal
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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