Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis
ABSTRACT: Brachyspina syndrome (BS) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Fresian breed caused by a deletion of 3.3Kb in the Fanconi anemia complementation group I (FANCI) gene on BTA-21, which leads to a frame-shift and premature stop codon. Some of the consequences of BS are the reduction of the fertility rate and milk production. This study developed a simple, sensitive, rapid cost- effective assay method based on real time PCR and melting curve analysis for the detection of BS carrier animals. Sixty-eight normal homozygous and four heterozygous carrier genotypes were detected and confirmed through traditional PCR- electrophoresis analysis. We concluded that the assay we have developed proved to be a reliable, highly precise and low-cost tool, which could be used to monitor the presence of the BS mutation in uruguayan Holstein breed.
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Universidade Federal de Santa Maria
2021
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oai:scielo:S0103-847820210009006522021-05-31Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysisRodriguez,María Teresa FedericiArtigas,RodyGuerra,SofíaSica,Andrea BrandaVázquez,NoeliaNicolini,PaulaQuintela,Fernando DutraLlambí,Silvia Bos taurus Holstein Brachyspina syndrome real time PCR melting curve analysis ABSTRACT: Brachyspina syndrome (BS) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Fresian breed caused by a deletion of 3.3Kb in the Fanconi anemia complementation group I (FANCI) gene on BTA-21, which leads to a frame-shift and premature stop codon. Some of the consequences of BS are the reduction of the fertility rate and milk production. This study developed a simple, sensitive, rapid cost- effective assay method based on real time PCR and melting curve analysis for the detection of BS carrier animals. Sixty-eight normal homozygous and four heterozygous carrier genotypes were detected and confirmed through traditional PCR- electrophoresis analysis. We concluded that the assay we have developed proved to be a reliable, highly precise and low-cost tool, which could be used to monitor the presence of the BS mutation in uruguayan Holstein breed.info:eu-repo/semantics/openAccessUniversidade Federal de Santa MariaCiência Rural v.51 n.9 20212021-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000900652en10.1590/0103-8478cr20200872 |
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Brasil |
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BR |
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rev-scielo-br |
| tag |
revista |
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America del Sur |
| libraryname |
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| language |
English |
| format |
Digital |
| author |
Rodriguez,María Teresa Federici Artigas,Rody Guerra,Sofía Sica,Andrea Branda Vázquez,Noelia Nicolini,Paula Quintela,Fernando Dutra Llambí,Silvia |
| spellingShingle |
Rodriguez,María Teresa Federici Artigas,Rody Guerra,Sofía Sica,Andrea Branda Vázquez,Noelia Nicolini,Paula Quintela,Fernando Dutra Llambí,Silvia Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis |
| author_facet |
Rodriguez,María Teresa Federici Artigas,Rody Guerra,Sofía Sica,Andrea Branda Vázquez,Noelia Nicolini,Paula Quintela,Fernando Dutra Llambí,Silvia |
| author_sort |
Rodriguez,María Teresa Federici |
| title |
Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis |
| title_short |
Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis |
| title_full |
Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis |
| title_fullStr |
Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis |
| title_full_unstemmed |
Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis |
| title_sort |
detection of the brachyspina mutation in uruguayan holstein cows using real time pcr and melting curve analysis |
| description |
ABSTRACT: Brachyspina syndrome (BS) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Fresian breed caused by a deletion of 3.3Kb in the Fanconi anemia complementation group I (FANCI) gene on BTA-21, which leads to a frame-shift and premature stop codon. Some of the consequences of BS are the reduction of the fertility rate and milk production. This study developed a simple, sensitive, rapid cost- effective assay method based on real time PCR and melting curve analysis for the detection of BS carrier animals. Sixty-eight normal homozygous and four heterozygous carrier genotypes were detected and confirmed through traditional PCR- electrophoresis analysis. We concluded that the assay we have developed proved to be a reliable, highly precise and low-cost tool, which could be used to monitor the presence of the BS mutation in uruguayan Holstein breed. |
| publisher |
Universidade Federal de Santa Maria |
| publishDate |
2021 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000900652 |
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