Study of PRCD c.5G>A mutation responsible for progressive rod-cone degeneration in Labrador retriever

• Grant number: 14/13186-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: August 01, 2014
• End date: July 31, 2015
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: Alexandre Secorun Borges
• Grantee: Roberta Martins Basso
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

The Progressive Retinal Atrophy (PRA) or progressive retinal degeneration involves progressive genetic diseases described in more than 100 breeds of dogs. Initially, the main clinical finding is loss of night vision (nyctalopia), later loss of day vision and total bilateral blindness will be present. The mean age appearance of the first visually impaired is 3-5 years and the changes in electroretinography about 3 years. The progressive rod-cone degeneration (PRCD) is one of irregularities associated with progressive retinal atrophy in Labrador breed and is an autosomal recessive hereditary disease. In Labrador, the mutation that causes the diseases occurs in the fifth nucleotide of the PRCD gene on chromosome 9, leading to exchange of a guanine by an adenine. The objective of this project is to determine the occurrence of mutation in the PRCD gene in Labrador retriever breed dogs using gene sequencing after amplification of DNA obtained from blood or buccal swab samples.(AU)