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Thrombopathia - American Eskimo Dog Type
| Acronym: | TRB |
| Gene: | RASGRP2 |
| Mutation: | c.452dup |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Thrombopathia is a genetic bleeding disorder associated with abnormal platelet function found in different dog breeds including American Eskimo dog. Platelets, or thrombocytes, have a key role in bleeding prevention through clumping of blood vessel injuries. Due to defect within the platelets, dogs with this disease are unable to form blood clot which can lead to excessive bleeding or canine hemorrhagia and prolonged bleeding time. Other early symptoms include nose bleeding, also known as epistaxis, and bleeding from other mucosal surfaces, such as mouth, gums, etc. The defect in the platelets of the American Eskimo dog is suspected to be related to a insertion in RASGRP2 gene that encodes a protein crutial for the activation of platelets by signal transduction proteins.
This type of thrombopathia found in American Eskimo dog is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Eskimo dogs with only one copy of the gene will not develop the disease but can act as carriers of the mutation. Early genetic testing can help identify dogs that carry the gene with the specific mutation and help breeders in proper selection of mating pairs.
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, M. K., Catalfamo, J. L., Klok, M. (2007). Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Translational research : the journal of laboratory and clinical medicine, 150(2), 81–92. https://doi.org/10.1016/j.trsl.2007.03.006
Mattson, J. C., Estry, D. W., Bell, T. G., & Patterson, W. R. (1986). Defective contact activation of platelets from dogs with basset hound hereditary thrombopathy. Thrombosis Research, 44(1), 23-38.