Genetic linkage analysis of epidermolysis bullosa dystrophica, Cockayne-Touraine type.
Genetic linkage relationships between 27 informative marker loci and the locus for epidermolysis bullosa dystrophica, Cockayne-Touraine type (EBD-CT), were examined in a single large kindred. Linkage could not be demonstrated to any of the marker loci, further adding to the exclusion map for EBD-CT. The dominant forms of EBD so far delineated by clinical criteria and electron microscopy remain genetically undefined in terms of loci and allelism. Further investigation will be undertaken using restriction fragment length polymorphisms mapped to regions outside the existing exclusion map.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000648:ultrastructure
D004798:Enzymes