Occurrence of quarter horses carriers mutations responsible for GBED, HM, PSSM1 and HYPP

• Grant number: 11/23729-0
• Support Opportunities: Regular Research Grants
• Start date: April 01, 2012
• End date: March 31, 2014
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: Alexandre Secorun Borges
• Grantee: Alexandre Secorun Borges
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil
• Associated researchers: João Pessoa Araújo Junior ; José Paes de Oliveira Filho

Abstract

Quarter Horses (QH) are used in a variety of sports activities and large investments are made for genetic improvement of this breed. Molecular tests and determination of the occurrence of genetic diseases are critical for early identification of genetic abnormalities and to guide selection for reproductive purposes. Genetic-related muscular diseases of the QH include glycogen branching enzyme deficiency (GBED), malignant hyperthermia (MH), polysaccharide storage myopathy (PSSM1), and hyperkalemic periodic paralysis (HYPP). These diseases are caused by mutations in genes GBE1, RYR1, GYS1 and SCN4A respectively. Though the mutations responsible for these diseases have been already described, only the HYPP genetic test is available in Brazil. This research aims to study the mutation occurrence of GBED, MH, PSSM1 and HYPP in Quarter Horses. Blood and/or hair of 800 QH competing in cutting, conformation, racing, barrel racing and pole bending will be sampled. DNA will be obtained from the samples followed by amplification and sequencing of the specific mutation sites for the abovementioned diseases. The optimized molecular tests will allow both, selection of horses free of these genetic traits for mating, and diagnosis confirmation in clinically affected horses. (AU)

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)

ARAUJO, CESAR E. T.; DELFIOL, DIEGO J. Z.; BADIAL, PERES R.; OLIVEIRA-FILHO, JOSE P.; ARAUJO-JUNIOR, JOAO P.; BORGES, ALEXANDRE S.. Prevalence of the Glycogen Branching Enzyme Deficiency Mutation in Quarter Horses in Brazil. Journal of Equine Veterinary Science, v. 62, p. 81-84, MAR 2018. (11/23729-0)

ZANZARINI DELFIOL, DIEGO JOSE; DE OLIVEIRA-FILHO, JOSE PAES; BADIAL, PERES RAMOS; BATTAZZA, ALEXANDRE; ARAUJO JUNIOR, JOAO PESSOA; BORGES, ALEXANDRE SECORUN. Estimation of the Allele Frequency of Type 1 Polysaccharide Storage Myopathy and Malignant Hyperthermia in Quarter Horses in Brazil. Journal of Equine Veterinary Science, v. 70, p. 38-41, NOV 2018. (11/23729-0)