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Cystinuria Type 3 [Bulldog Risk Factor Variant 2&3]

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Test Overview:

This genetic test is considered a linkage marker test for Type 3 Cystinuria. This test identifies the variant associated to the bulldog breeds having been published as having association to the Bulldog, Mastiff and French bulldog. Linkage associated markers identify a mutation in close proximity to the disease-causing mutation and are predictably inherited along with it. This test looks for a change in the SLC7A9 gene that might be related to cystinuria type 3 (Variant 3). Although it is considered that this change directly causes the disease, but it might be located near the real cause in the DNA. So, if a dog has this mutation, it might also have the disease-causing phenotype (expression).

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

SLC3A and SLC7A9

Variant Detected:

chr10:46735617 (canFam3): A/G; chr1:119209134 (canFam3): G/A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):

Harnevik L, Hoppe A, Soderkvist P. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Mamm Genome. 2006 Jul;17(7):769-76. [PubMed: 16845473]

Associated Breed(s):

American Bulldog , Australian Bulldog, British Bulldog, Bullmastiff, French Bulldog, Southern Cross Bulldog,

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