Mutation Linked to Polycystic Kidney Disease in Bull Terriers
Author Information
Author(s): Gharahkhani Puya, O'Leary Caroline A., Kyaw-Tanner Myat, Sturm Richard A., Duffy David L.
Primary Institution: The University of Queensland
Hypothesis
This study aimed to identify mutations in the Pkd1 gene associated with Bull Terrier Polycystic Kidney Disease (BTPKD).
Conclusion
A specific mutation in the Pkd1 gene is associated with BTPKD in Bull Terriers, and a diagnostic test has been developed to identify this mutation.
Supporting Evidence
- The mutation was identified in two affected Bull Terriers but not in two unaffected dogs.
- All 47 dogs with BTPKD had one copy of the mutation detected.
- Bioinformatic analysis predicted the mutation to be pathogenic.
Takeaway
The study found a change in a gene that causes kidney disease in some Bull Terriers, and they created a test to help identify affected dogs before they get sick.
Methodology
The study sequenced genomic DNA from affected and unaffected Bull Terriers to identify mutations in the Pkd1 gene.
Limitations
Some regions of the Pkd1 gene were not sequenced, and the study relied on a limited sample of dogs.
Participant Demographics
The study included 47 affected and 102 unaffected Bull Terriers, all over one year of age.
Digital Object Identifier (DOI)
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