EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH THE AUTOSOMAL DOMINANT SIMPLEX FORM

DNA from members of a three-generation pedigree of Irish origin, displaying an autosomal dominant simplex form of epidermolysis bullosa of the epidermolytic, simplex, or Koebner variety (EBS2), was analyzed for linkage with a set of markers derived from the long arm of chromosome 1. Two-point analysis revealed positive lod scores for five of these markers, AT3 (Z = 2.107, θ = 0), APOA2 (Z = 1.939, θ = 0.15), D1S66 (Z = 1.204, θ = 0), D1S13 (Z = 1.026, θ = 0.15), and D1S65 (Z = 0.329, θ = 0.15). Multilocus analysis, incorporating the markers D1S19, D1S16, D1S13, APOA2, D1S66, AT3, and D1S65, resulted in a lod score of 3 maximizing at AT3. These data strongly support previous tentative indications of linkage between EBS2 and genetic markers on the long arm of chromosome 1. © 1990.