1. Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds
- Author
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Bert J. Vermeer, Jan Nico Bouwes Bavinck, Nelleke A. Gruis, Arie van Haeringen, Peter M. Steijlen, Rune R. Frants, Sylvia E. C. van Beersum, Edwin C. M. Mariman, Jan Gerrit van der Schroeff, Rudolf Happle, and Jouni Uitto
- Subjects
Male ,Genetic Linkage ,Dermatology ,Biology ,Biochemistry ,Genetic linkage ,Gene expression ,COL7A1 Gene ,medicine ,Humans ,skin and connective tissue diseases ,Gene ,Molecular Biology ,Genes, Dominant ,Netherlands ,Genetics ,Epidermis (botany) ,integumentary system ,Nucleic Acid Hybridization ,DNA ,Cell Biology ,medicine.disease ,Autosomal dominant form ,Epidermolysis Bullosa Dystrophica ,Pedigree ,Dystrophic epidermolysis bullosa ,Phenotype ,Female ,Collagen ,Epidermolysis bullosa ,Polymorphism, Restriction Fragment Length - Abstract
Epidermolysis bullosa is a heterogeneous group of heritable blistering skin diseases affecting epidermis and the dermal-epidermal junction zone. Recently, genetic linkage to the type VII collagen gene (Z = 8.77; theta = 0.00) localized on chromosome 3p21 was shown in three Finnish families with the autosomal dominant form of dystrophic epidermolysis bullosa. Two Dutch kindreds with intrafamilial characteristics of both the Cockayne-Touraine type and Bart's syndrome of autosomal dominant dystrophic epidermolysis bullosa have been studied. Two-point linkage analysis in these two families with the COL7A1 marker revealed a combined lod score of Z = 6.08 at theta = 0.00. These data strongly suggest that the type VII collagen gene is the candidate gene in these Dutch pedigrees. At least two (Cockayne-Touraine and Bart) of the three subtypes of dominant dystrophic epidermolysis bullosa seem to represent different forms of expression of the same gene defect.
- Published
- 1992
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