Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.
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.
Department of Dermatology, University Hospital Leiden, The Netherlands.
N A
NA
Gruis
J N
JN
Bavinck
P M
PM
Steijlen
J G
JG
van der Schroeff
A
A
van Haeringen
R
R
Happle
E
E
Mariman
S E
SE
van Beersum
J
J
Uitto
B J
BJ
Vermeer
D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000032:analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009426:Netherlands; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length
D003094:Collagen; D004247:DNA