Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds

J Invest Dermatol. 1992 Nov;99(5):528-30. doi: 10.1111/1523-1747.ep12658066.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Collagen / genetics*
  • DNA / analysis
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage
  • Humans
  • Male
  • Netherlands
  • Nucleic Acid Hybridization
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length

Substances

  • Collagen
  • DNA