The autosomal dominant polycystic kidney disease (ADPKD) is one of the congenital hereditary diseases that most affects cats, mainly Persian breed, which is characterized by development of cysts in renal parenchyma and, eventually, in other organs, leading to a commitment of their functions and a guarded to poor prognostic. The ADPKD in felines has, as main genetic change, transversion of cytosine for adenine nucleotide at position 3284 of exon 29 of PKD1 (Polycystic Kidney Disease 1) gene, resulting in a premature mRNA stop codon. First of all, it is known that these cysts may occur at any age and silently, hampering the early diagnostic, once the ultrasound is one of the most classic exams to identify it. However, most often the image exam is performed only when the animal is already showing any clinical sign at advanced stages of the disease, such as polydipsia, hematuria, polyuria. Therefore, the genetic evaluation is still considerate the safest and the most efficient test for the early diagnostic of APKD in cats. On the other hand, the more practical is to collect the biological material for genetic evaluation, the greater is the chance of supporting the diagnostic exam by the owners and the stress submitted by cats will be lower. Nowadays, the golden standard for genomic DNA extraction is by means of blood, invasive method that requires active participation of the veterinarian and, often, relies on animal collaboration. Thus, this work has as main goal to test and to standardize the genomic DNA extraction from biological materials for easy collection in Persian cats, such as oral epithelial mucosa cells and hair, using different extraction methods. To check each sample efficiency, the quantity and quality of extracted genetic material will be evaluated in comparison with blood from the same animals, in addition to performing PCR and RFLP for identification of exon 29 mutation in PKD1 feline gene. These data may help the owners and veterinarians in the early diagnostic of APKD, besides assisting to control and to eradicate the disease in Persian cats.
News published in Agência FAPESP Newsletter about the scholarship: