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Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease     
Yazarlar
Nüket Bilgen
Ankara Üniversitesi, Türkiye
Merve Bişkin Türkmen
Türkiye
Bengi Çınar Kul
Ankara Üniversitesi, Türkiye
Sevim Isparta
Türkiye
Yusuf Şen
Türkiye
Mustafa Yenal Akkurt
Ankara Üniversitesi, Türkiye
Dr. Öğr. Üyesi Özge Şebnem ÇILDIR Dr. Öğr. Üyesi Özge Şebnem ÇILDIR
Kafkas Üniversitesi, Türkiye
Zeynep Bars
Türkiye
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 () 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 (), which was not compatible with dominant inheritance of PKD.
Anahtar Kelimeler
ADPKD | autosomal dominant | cats | hereditary disease | kidney | polycystic kidney disease
Makale Türü Özgün Makale
Makale Alt Türü SSCI, AHCI, SCI, SCI-Exp dergilerinde yayımlanan tam makale
Dergi Adı JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION
Dergi ISSN 1040-6387
Dergi Tarandığı Indeksler SCI-Expanded
Dergi Grubu Q2
Makale Dili İngilizce
Basım Tarihi 07-2020
Cilt No 32
Sayı 4
Sayfalar 549 / 555
Doi Numarası 10.1177/1040638720935433
Makale Linki https://journals.sagepub.com/doi/10.1177/1040638720935433