Prevalence of PKD1gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease
Yükleniyor...
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SAGE PUBLICATIONS INC
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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 -> 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.
Açıklama
Isparta, Sevim/0000-0002-1575-7861; Bars, Zeynep/0000-0002-8116-1855; CINAR KUL, Bengi/0000-0002-8955-0097; Cildir, Ozge Sebnem/0000-0001-7070-4212
Anahtar Kelimeler
ADPKD, autosomal dominant, cats, hereditary disease, kidney, polycystic kidney disease
Kaynak
JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION
WoS Q Değeri
Q3
Scopus Q Değeri
Q1
Cilt
32
Sayı
4
Künye
Bu makale açık erişimli değildir.
