Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

Abstract 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.摘要：常染色体显性遗传性多囊肾病（Autosomal dominant polycystic kidney disease, ADPKD）是猫类最常见的遗传性疾病。然而，巴西地区关于该疾病患病率的相关数据仍较为匮乏。本研究为明确巴西种群中ADPKD的患病率，对波斯猫及波斯相关品种开展分子基因分型检测，以鉴定PKD1基因（PKD1 gene）第29外显子处的C→A颠换突变。研究采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对从外周全血或口腔拭子样本中提取的基因组DNA进行PKD1基因第29外显子的扩增。共计纳入616只受试动物，其中537只波斯猫中有27只、17只喜马拉雅猫中有1只，在猫科PKD1基因第29外显子3284位点检出单核苷酸变异（single-nucleotide variant，C→A）。该致病性变异仅以杂合子状态被检出。波斯猫及波斯相关品种的ADPKD患病率分别为5.03%和1.6%。未发现猫品种、性别或年龄与ADPKD患病率存在显著关联。值得注意的是，巴西地区波斯猫及波斯相关品种的ADPKD患病率低于全球其他地区的报道数据。这一结果可能与遗传咨询以及后续筛选无ADPKD的猫咪用于繁育有关。