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Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24
G Richard1, B P Korge, A R Wright
1Laboratory of Skin Biology, NIAMS, National Institutes of Health, Bethesda, Maryland, USA.
Abstract:
Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14 cM 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 5 cM, flanked by D3S1589 and D3S1290.