Laboratório de Patologia Morfológica e Molecular, Departamento de Patologia, Faculdade de Medicina Veterinária e Zootecnia - FMVZ, Universidade de São Paulo - USP, Av. Prof. Dr. Orlando Marques de Paiva, 87, Cidade Universitária, CEP 05508-270, São Paulo, SP, Brasil.
Gattos - Clínica Especializada em Medicina Felina, Av. Vereador José Diniz, 3165, Campo Belo, CEP 04603-002, São Paulo, SP, Brasil.
Braz J Biol. 2021 Mar-May;81(2):392-397. doi: 10.1590/1519-6984.227131.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.
常染色体显性多囊肾病(ADPKD)是猫最常见的遗传疾病。然而,巴西对此病的流行率数据很少。通过对波斯猫和波斯相关品种的 PKD1 基因第 29 外显子的 C 到 A 颠换进行分子基因分型,以确定巴西人群中 ADPKD 的流行率。使用 PCR-RFLP 方法从外周全血或口腔拭子样本中提取基因组 DNA,以扩增 PKD1 基因的第 29 外显子。在总共 616 只动物中,537 只波斯猫和 17 只喜马拉雅猫中有 27 只显示出 PKD1 基因第 29 外显子位置 3284 的单核苷酸变异(C 到 A)。这种致病性变异仅在杂合状态下被识别。波斯猫和波斯相关品种的 ADPKD 患病率分别为 5.03%和 1.6%。猫的品种、性别或年龄与 ADPKD 患病率之间没有显著关联。值得注意的是,在巴西观察到的波斯猫和波斯相关品种的 ADPKD 患病率低于世界其他地区报告的患病率。这一发现可能与遗传咨询有关,随后选择无 ADPKD 的猫进行繁殖。