Detection of the mutations responsibles for albinism and congenital miotonia in buffaloes (Bubalus bubalis)

• Grant number: 15/23569-4
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: January 01, 2016
• End date: September 30, 2016
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: José Paes de Oliveira Filho
• Grantee: Pedro Negri Bernardino
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Disorders of genetic origin are seen in different species of domestic ruminants, however in many cases the etiologic diagnosis of this type of disorder is not performed because of negligence or by the clinician not knowing the affection or lack of diagnostic methodology. The clinical recognition, just like the etiologic diagnosis of the mutation responsible for the affection made through molecular tests, have great importance once prophylactic measures can be used in order to reduce the occurrence of new cases, thus reducing financial losses. Among the genetic affections concerning buffaloes (Bubalis bubalus) the Oculocutaneous Albinism and the Hereditary Congenital Miotonia were already described in Brazil however no study concerning the prevalence of the mutations responsible for them was made in this country. Therefore, this project aim to verify the prevalence of the mutations responsible for these disorders in a buffalo population of different states from Brazil. In order to do this, PCR for detection of the respective mutations and direct sequencing will be performed. In the end, the discovery of the prevalence of the mutations responsible for each of the affections will allow the adoption of measures like orientation in the reproduction or discard of animals that are homozygous for the mutations, which will prevent the appearing of new cases and also will be provided to the producers molecular tests for each of the affections studied. (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)

BERNARDINO, PEDRO N.; MARTINS, ALINE F. A.; BARBOSA, JOSE D.; SCHILD, ANA L.; DAME, MARIA CECILIA F.; BORGES, ALEXANDRE S.; OLIVEIRA, JOSE P.. Detecção molecular do gene do albinismo em rebanhos de búfalos (Bubalus bubalis) do Brasil. Pesquisa Veterinária Brasileira, v. 39, n. 3, p. 175-178, MAR 2019. (15/23569-4)