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.

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，巴西境内关于该病患病率的相关数据仍较为匮乏。本研究针对巴西猫群中的ADPKD患病率展开调查，对波斯猫及波斯相关品种猫的PKD1基因（PKD1 gene）第29外显子（exon 29）区域存在的C→A颠换进行分子基因分型检测。本实验采用PCR-RFLP（Polymerase Chain Reaction-Restriction Fragment Length Polymorphism）方法，以从外周全血或口腔拭子样本中提取的基因组DNA为模板，扩增PKD1基因第29外显子序列。在总计616只受试动物中，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位点存在该单核苷酸变异（single-nucleotide variant, C→A）。该致病性变异仅在杂合子状态（heterozygous state）下被检出。波斯猫及波斯相关品种猫的ADPKD患病率分别为5.03%与1.6%。未观察到猫品种、性别或年龄与ADPKD患病率存在显著关联。值得注意的是，巴西境内波斯猫及波斯相关品种猫的ADPKD患病率低于全球其他地区的报道数据。该结果可能与遗传咨询及后续筛选无ADPKD的猫只用于繁育相关。