Breeds Affected: Greater Swiss Mountain Dog
Samples Accepted: Blood, Buccal Swabs
Disease Information: This platelet disorder is caused by a mutation in the P2Y12 gene. Affected dogs show few symptoms (spontaneous hemorrhage is rare without other contributing factors); however, hemorrhage after trauma or surgical procedures can be life-threatening.
Inheritance Information: Postoperative Hemorrhage 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/P2Y12 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/P2Y12 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
P2Y12/P2Y12 The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to a carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/P2Y12 x 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/P2Y12 x N/P2Y12) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (P2Y12/P2Y12) should not be used for breeding.
Test Information: This mutation test identifies a 3 base pair deletion in the P2Y12 gene. Animals which have two copies of this allele are affected with Postoperative hemorrhage, and animals with one copy are clinically-normal carriers.
Boudreaux, MK., Martin, M.: P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol 40:202-206, 2011. Pubmed reference: 21554368. Doi: 10.1111/j.1939-165X.2011.00318.x.
Further information is available at the Online Mendelian Inheritance in Animals website.