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No disease‐associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease
Author(s) -
O'Leary C. A.,
Atwell R. B.,
Laing N. G.
Publication year - 2003
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1046/j.1365-2052.2003.01013.x
Subject(s) - pkd1 , polycystic kidney disease , biology , coding region , autosomal dominant polycystic kidney disease , untranslated region , gene , disease , genetics , kidney disease , complementary dna , kidney , messenger rna , medicine , endocrinology
Summary The 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.