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Peer-reviewed veterinary case report

No gene mutations found in Bull Terriers with kidney cysts

By O'Leary, C. A. et al.·Published in Animal Genetics·2003·View original on Crossref

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Original publication title: No disease‐associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease

Species:
dog

Plain-English summary

A group of five Bull Terriers with polycystic kidney disease (a condition that causes fluid-filled cysts in the kidneys) was studied to find any genetic mutations linked to the disease. Researchers compared their genetic material with that of four related dogs who did not have the disease. While they found some genetic variations, none were linked to the kidney disease. This suggests that the cause of polycystic kidney disease in these dogs may not be due to mutations in the specific gene they examined.

People also search for: Bull Terrier kidney disease · polycystic kidney disease in dogs · dog kidney disease genetics

Abstract

SummaryThe aim of this study was to identify possible disease‐associated mutations in the canine homologue of the polycystic kidney disease gene 1 (PKD1) in Bull Terriers with autosomal dominant polycystic kidney disease. Messenger RNA was obtained from the blood or renal tissue of five Bull Terriers with the disease and four close relatives without the disease. Reverse transcription, PCR and 3′ rapid amplification of cDNA ends were used to amplify the coding and 3′ untranslated regions of this transcript. Comparison of PKD1 sequence between the affected and unaffected Bull Terriers, revealed six polymorphisms, but no disease‐associated mutations.

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Original publication on Crossref: https://doi.org/10.1046/j.1365-2052.2003.01013.x