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.
Gruis
N A
NA
Department of Dermatology, University Hospital Leiden, The Netherlands.
Bavinck
J N
JN
Steijlen
P M
PM
van der Schroeff
J G
JG
van Haeringen
A
A
Happle
R
R
Mariman
E
E
van Beersum
S E
SE
Uitto
J
J
Vermeer
B J
BJ
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