Breeds Affected: Golden Retriever
Samples Accepted: Blood, Buccal Swabs
Disease Information: DEB is characterized by blistering of the skin due to the absence of a protein required for connecting layers of skin. Affected dogs have retarded growth, possibly due to problems with the digestive tract because the mucosal lining is also affected.
Inheritance Information: DEB is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/deb The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/deb carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
deb/deb The dog is affected, and if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/deb carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/debx N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/deb x N/deb) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (deb/deb) should not be used for breeding.
Test Information: This test identifies a single base change in the COL7A1 gene.
Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G.: Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109
Palazzi, X., Marchal, T., Chabanne, L., Spadafora, A., Magnol, J.P., Meneguzzi, G.: Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology 115:135-137, 2000. Pubmed reference: 10886525. DOI: 10.1046/j.1523-1747.2000.00031-5.x
Further information is available at the Online Mendelian Inheritance in Animals website.