EVG, molekularna diagnostika
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SI-2000 Maribor  

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Polycystic Kidney Disease (PKD) in Bull Terrier is an inherited autosomal dominant disease. The mutation in PKD1 gene causes dogs to develop kidney cysts filled with fluid. These cysts grow in size and number as the diseases progresses, gradually replacing healthy kidney tissue with non-functional cysts and thus impairing renal function. Chronic renal failure appears in middle to old age and leads to death. Although renal cysts can be detected by ultrasound screening, it is difficult to establish a definite diagnosis, especially early in the disease course.


Inheritance: autosomal dominantread more

Mutation: PKD1 gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The real-time PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: Because disease is autosomal dominant it will manifest itself in all animals carrying at least one mutated gene. Such heterozygous animals will show clinical signs that will decrease their quality of life. If heterozygous animal is mated with clear animal, there is a 50% chance for the offspring to inherit tested mutation and therefore develop the disease. With the intention of eradication of the disease it is not advisable to breed diseased animals. 

Affected breeds: Bull Terrier

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.


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