首次报告在一系列相关的斯芬克斯猫中发现了 PKD1 基因的常见致病变体，该变体可导致多囊肾病。

IF 1.3 3区农林科学 Q2 VETERINARY SCIENCES

Topics in companion animal medicine Pub Date : 2024-11-01 DOI:10.1016/j.tcam.2024.100928

Joanna Nowacka-Woszuk , Marta Sobczak , Zuzanna Sawicz , Marlena Wiench , Hanna Nowaczyk-Rzeszotalska , Malwina Kolodziej , Marek Switonski

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引用次数: 0

摘要

多囊肾病（PKD）是猫科动物中最常见的单基因疾病，尤其是在波斯猫和相关品种的猫科动物中。在本报告中，我们首次描述了加拿大斯芬克斯猫的两个亲缘家庭（全同胞汤姆猫）中的 PKD。我们使用超声波检查法对每个家族中的 14 只猫咪（包括 5 只幼猫）进行了检查。在两只雄猫和五只幼猫（每窝分别有两只和三只）身上都发现了囊肿。一个肾脏中囊肿的数量从一个到六个不等。PKD1 基因显性致病变体（Felis_catus_9.0, NC_018738.3：chr E3:g.42858112C>A (c.9882C>A)）的分子搜索结果显示与临床调查完全吻合：所有肾脏出现囊肿的猫都是该变体的杂合子（C/A）。

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First report on the presence of a common pathogenic variant in the PKD1 gene, causing polycystic kidney disease, in a series of related Sphynx cats

Polycystic kidney disease (PKD) is the most common monogenic disease in cats, especially in Persian and related breeds. In this report we describe for the first time PKD in two related families (full sibling tomcats) of Canadian Sphynx cats. Altogether fourteen cats, including five kittens in each family, were investigated using ultrasonography. Cysts were observed in both tomcats and in five kittens (two and three in the litters). The number of cysts in a single kidney varied from one to six. A molecular search for the causative dominant pathogenic variant (Felis_catus_9.0, NC_018738.3: chr E3:g.42858112C>A (c.9882C>A)) in the PKD1 gene showed full concordance with clinical investigations: all cats with cysts in their kidneys were heterozygous (C/A) for this variant.

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来源期刊

Topics in companion animal medicine 农林科学-兽医学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

88 days

期刊介绍： Published quarterly, Topics in Companion Animal Medicine is a peer-reviewed veterinary scientific journal dedicated to providing practitioners with the most recent advances in companion animal medicine. The journal publishes high quality original clinical research focusing on important topics in companion animal medicine.