title: Linkage of epidermolysis bullosa simplex to keratin gene loci.
abstract: Epidermolysis bullosa simplex (EBS) is an autosomal dominant disorder characterised by intraepidermal blistering of the skin. Two families with Weber-Cockayne EBS have been analysed for linkage to keratin gene loci. In the first family, linkage was found to chromosome 17 markers flanking the keratin 14 gene (D17S74: Zmax = +2.45, theta = 0.10; COL1A1: Zmax = +0.97, theta = 0.00) and markers near the keratin 5 gene on chromosome 12 were excluded (D12S17: Z less than -2.0, theta = 0.08; COL2A1: Z less than -2.0, theta = 0.13). In contrast, the second family showed linkage to the region containing the keratin 5 gene (D12S17: Zmax = +1.37, theta = 0.08; COL2A1: Zmax = +0.33, theta = 0.15) and was not linked to the keratin 14 gene (D17S74: Z less than -2.0, theta = 0.14). The Weber-Cockayne form of EBS is genetically heterogeneous with linkage to different keratin gene loci.
authors.affiliation: Department of Dermatology, Royal Victoria Hospital, Belfast, Northern Ireland.
authors.forename: K E
authors.initials: KE
authors.lastname: McKenna
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
authors.forename: E A
authors.initials: EA
authors.lastname: Bingham
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D015139:Blotting, Southern; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002886:Chromosomes, Human, Pair 17; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D007633:Keratins