Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)

ABSTRACT: Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same. In buffalo, a nonsense mutation (c.1431G>A) in the tyrosinase gene was already described, which is responsible for the oculocutaneous albinism buffalo phenotype. However, prevalence studies have never been performed for this anomaly in Brazil. Therefore, the objective of this study was to investigate this mutation in buffalo herd in Brazil. Of the 315 buffalo tested with no albinism phenotype evident, 11 (3.5%) were heterozygous for the mutation and none were mutated homozygous, showing the existence of the albinism gene in buffalo production herds and proving the importance of prevalence studies for hereditary diseases in order to prevent the dissemination of these same genes and their negative productivity consequences.

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Main Authors: Bernardino,Pedro N., Martins,Aline F.A., Barbosa,José D., Schild,Ana L., Damé,Maria Cecília F., Borges,Alexandre S., Oliveira-Filho,José P.
Format: Digital revista
Language:English
Published: Colégio Brasileiro de Patologia Animal - CBPA 2019
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-736X2019000300175
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spelling oai:scielo:S0100-736X20190003001752019-04-01Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)Bernardino,Pedro N.Martins,Aline F.A.Barbosa,José D.Schild,Ana L.Damé,Maria Cecília F.Borges,Alexandre S.Oliveira-Filho,José P. Molecular detection albinism gene buffalo herds Bubalus bubalis mutation tyrosinase prevalence genetics ABSTRACT: Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same. In buffalo, a nonsense mutation (c.1431G>A) in the tyrosinase gene was already described, which is responsible for the oculocutaneous albinism buffalo phenotype. However, prevalence studies have never been performed for this anomaly in Brazil. Therefore, the objective of this study was to investigate this mutation in buffalo herd in Brazil. Of the 315 buffalo tested with no albinism phenotype evident, 11 (3.5%) were heterozygous for the mutation and none were mutated homozygous, showing the existence of the albinism gene in buffalo production herds and proving the importance of prevalence studies for hereditary diseases in order to prevent the dissemination of these same genes and their negative productivity consequences.info:eu-repo/semantics/openAccessColégio Brasileiro de Patologia Animal - CBPAPesquisa Veterinária Brasileira v.39 n.3 20192019-03-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-736X2019000300175en10.1590/1678-5150-pvb-6185
institution SCIELO
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country Brasil
countrycode BR
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region America del Sur
libraryname SciELO
language English
format Digital
author Bernardino,Pedro N.
Martins,Aline F.A.
Barbosa,José D.
Schild,Ana L.
Damé,Maria Cecília F.
Borges,Alexandre S.
Oliveira-Filho,José P.
spellingShingle Bernardino,Pedro N.
Martins,Aline F.A.
Barbosa,José D.
Schild,Ana L.
Damé,Maria Cecília F.
Borges,Alexandre S.
Oliveira-Filho,José P.
Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)
author_facet Bernardino,Pedro N.
Martins,Aline F.A.
Barbosa,José D.
Schild,Ana L.
Damé,Maria Cecília F.
Borges,Alexandre S.
Oliveira-Filho,José P.
author_sort Bernardino,Pedro N.
title Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)
title_short Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)
title_full Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)
title_fullStr Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)
title_full_unstemmed Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)
title_sort molecular detection of albinism gene in brazilian buffalo herds (bubalus bubalis)
description ABSTRACT: Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same. In buffalo, a nonsense mutation (c.1431G>A) in the tyrosinase gene was already described, which is responsible for the oculocutaneous albinism buffalo phenotype. However, prevalence studies have never been performed for this anomaly in Brazil. Therefore, the objective of this study was to investigate this mutation in buffalo herd in Brazil. Of the 315 buffalo tested with no albinism phenotype evident, 11 (3.5%) were heterozygous for the mutation and none were mutated homozygous, showing the existence of the albinism gene in buffalo production herds and proving the importance of prevalence studies for hereditary diseases in order to prevent the dissemination of these same genes and their negative productivity consequences.
publisher Colégio Brasileiro de Patologia Animal - CBPA
publishDate 2019
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-736X2019000300175
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