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Greater Swiss Mountain Dog Postoperative Hemorrhage
| Acronym: | P2Y12 |
| Gene: | P2RY12 |
| Mutation: | c.516_518delCTC |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Greater Swiss Mountain Dog Postoperative Hemorrhage (P2Y12) is a newly identified hereditary disorder of platelets characterized by excessive postoperative bleeding. A similar bleeding disorder caused by a mutation within the same gene has been identified in human patients. Platelets are also known as thrombocytes, and they have a key role in bleeding prevention through the clumping of blood vessel injuries. At a site of vascular injury, platelets are exposed to the surface which is not from a blood vessel, and they initiate to aggregate with each other, which results in the formation of a hemostatic plug that will seal the defect. The platelet P2Y12 receptor for adenosine 5’diphosphate (ADP) has a key role in platelet function, hemostasis, and thrombosis. Other than that, P2Y12 takes place also in inflammation processes. It has been observed that patients with inherited P2Y12 defects are prone to mild-to-moderate bleeding. Biochemically, P2Y12 defects are suspected when even at high concentrations ADP is unable to induce full platelet aggregation. Agents that can induce affinity of the integrin for fibrinogen are ADP, collagen, thromboxane, and thrombin. Unfortunately, in the case of bleeding disorders, these agents do not have an effect on platelet aggregation.
Affected dogs show no abnormalities on physical examination. Dogs may go through life events, such as whelping, vaccinations, deworming, or microchip implantation, with no reported problems. Excessive, severe, and prolonged bleeding occurs after a trauma or minor cut, nail trimming, or during the eruption of adult teeth. Problems occur after operation. Mucous membranes appear as pale and the dog is weak, with severe bruising around the incision line. Collection of peritoneal fluid and its examination reveals internal bleeding. Hematoma can be found within the body, and in one affected dog hematoma was present near 1 ovarian pedicle. Spontaneous bleeding is usually not encountered in affected dogs. Greater Swiss Mountain Dog Postoperative Hemorrhage (P2Y12) is caused by a mutation encoding for the platelet P2Y12 receptor. The detected mutation involves 3 base-pair deletion. The disorder is inherited in an autosomal recessive pattern. A dog can be clear, carrier, or affected. A dog carrying one copy of the mutated gene is heterozygous and will not show postoperative hemorrhage symptoms. When mating two carriers (heterozygotes) at conception each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Boudreaux MK, Martin M.(2011.): P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol. Jun; 40(2):202-6.