Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease.
J Vet Diagn Invest
; 32(4): 549-555, 2020 Jul.
Article
en En
| MEDLINE
| ID: mdl-32687010
ABSTRACT
Polycystic kidney disease (PKD) is one of the most common hereditary diseases in cats, with high prevalence in Persian and Persian-related cats. PKD is caused mainly by an inherited autosomal dominant (AD) mutation, and animals may be asymptomatic for years. We screened 16 cats from various breeds exhibiting a renal abnormality by ultrasound examination and genotyped them for the c.10063C>A transversion on exon 29 of the polycystin-1 (PKD1) gene, by PCR-restriction fragment length polymorphism (PCR-RFLP). Among these cats, a Siamese nuclear family of 4 cats with ancestral hereditary renal failure were screened by whole-genome sequencing (WGS) to determine novel variations in genes associated with both AD and autosomal recessive PKD in humans. During the study period, one cat died as a result of renal failure and was forwarded for autopsy. Additionally, we screened 294 cats asymptomatic for renal disease (Angora, Van, Persian, Siamese, Scottish Fold, Exotic Shorthair, British Shorthair, and mixed breeds) to determine the prevalence of the mutation in cats in Turkey. Ten of the symptomatic and 2 of the asymptomatic cats carried the heterozygous C â A transversion, indicating a prevalence of 62.5% and 0.68%, respectively. In the WGS analysis of 4 cats in the Siamese nuclear family, novel variations were determined in the fibrocystin gene (PKHD1), which was not compatible with dominant inheritance of PKD.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de los Gatos
/
Canales Catiónicos TRPP
/
Enfermedades Renales Poliquísticas
/
Mutación
Tipo de estudio:
Etiology_studies
/
Prevalence_studies
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Risk_factors_studies
Límite:
Animals
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Vet Diagn Invest
Asunto de la revista:
MEDICINA VETERINARIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Turquía