title: Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.
abstract: 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, theta = 0), APOA2 (Z = 1.939, theta = 0.15), D1S66 (Z = 1.204, theta = 0), D1S13 (Z = 1.026, theta = 0.15), and D1S65 (Z = 0.329, theta = 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.
authors.affiliation: Department of Genetics, Trinity College, Dublin 2, Ireland.
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: D
authors.initials: D
authors.lastname: Sheils
authors.forename: M
authors.initials: M
authors.lastname: Lawler
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: P
authors.initials: P
authors.lastname: McWilliam
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: D G
authors.initials: DG
authors.lastname: Bradley
authors.forename: E M
authors.initials: EM
authors.lastname: Sharp
authors.forename: E F
authors.initials: EF
authors.lastname: Gaffney
authors.forename: M
authors.initials: M
authors.lastname: Young
mesh_terms: D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D004247:DNA / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers; D004247:DNA