Assessment of the mutations prcd-PRA (5G>A), GRPRA1 (SLC4A3) and PRA2 (TTC8) responsible for progressive retinal atrophy in Golden Retriever dogs

• Grant number: 20/15284-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: March 01, 2021
• End date: February 28, 2022
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: José Paes de Oliveira Filho
• Grantee: Giulia Gumiero Guiraldelli
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

The study of diseases of genetic origin in domestic animals is becoming increasingly relevant, especially in dogs, since these animals may serve as experimental models for studies of certain genetic diseases in humans. In addition, the clinical recognition of some of these diseases can be an obstacle to the Veterinarian and on some occasions the genetic test that would confirm the etiology of the disease is only available outside the country. So far, the prevalence of mutations responsible for Progressive Retinal Atrophy (PRA) in Golden Retriever dogs has not been verified in Brazil, so the objective of this study will be to assess the prevalence of prcd-PRA (5G> A), GRPRA1 (SLC4A3) mutations and PRA2 (TTC8) in Brazilian Golden Retriever dogs. For this purpose, purified DNA from blood samples of 60 Golden Retriever dogs from kennels or domestics tutors will be used. DNA fragments with the mutation points will be amplified by polymerase chain reaction (PCR) and subjected to direct gene sequencing. The genotyping of these animals will be analyzed using the electropherograms obtained from the sequencing and the nucleotide sequences deposited in the GenBankTM will be compared. The discovery of the allelic frequency of this mutation will allow the orientation of the mating in order to reduce the clinical cases of the disease and, if necessary, the implementation of control measures for these diseases in Golden Retriever dogs in Brazil.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

TRECENTI-SANTANA, ANELIZE SOUZA; GUIRALDELLI, GIULIA GUMIERO; ALBERTINO, LUKAS GARRIDO; FERREIRA, JULIA FRANCO; ANDRADE, FABIANA MICHELSEN; BORGES, ALEXANDRE SECORUN; OLIVEIRA-FILHO, JOSE PAES. Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil. FRONTIERS IN VETERINARY SCIENCE, v. 9, p. 5-pg., 2022-10-17. (20/15284-8)