Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis

Detalhes bibliográficos
Autor(a) principal: Rodriguez,María Teresa Federici
Data de Publicação: 2021
Outros Autores: Artigas,Rody, Guerra,Sofía, Sica,Andrea Branda, Vázquez,Noelia, Nicolini,Paula, Quintela,Fernando Dutra, Llambí,Silvia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Ciência Rural
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000900652
Resumo: 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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spelling Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysisBos taurusHolsteinBrachyspina syndromereal time PCRmelting curve analysisABSTRACT: 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.Universidade Federal de Santa Maria2021-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000900652Ciência Rural v.51 n.9 2021reponame:Ciência Ruralinstname:Universidade Federal de Santa Maria (UFSM)instacron:UFSM10.1590/0103-8478cr20200872info:eu-repo/semantics/openAccessRodriguez,María Teresa FedericiArtigas,RodyGuerra,SofíaSica,Andrea BrandaVázquez,NoeliaNicolini,PaulaQuintela,Fernando DutraLlambí,Silviaeng2021-05-31T00:00:00ZRevista
dc.title.none.fl_str_mv Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis
title Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis
spellingShingle Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis
Rodriguez,María Teresa Federici
Bos taurus
Holstein
Brachyspina syndrome
real time PCR
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
author Rodriguez,María Teresa Federici
author_facet Rodriguez,María Teresa Federici
Artigas,Rody
Guerra,Sofía
Sica,Andrea Branda
Vázquez,Noelia
Nicolini,Paula
Quintela,Fernando Dutra
Llambí,Silvia
author_role author
author2 Artigas,Rody
Guerra,Sofía
Sica,Andrea Branda
Vázquez,Noelia
Nicolini,Paula
Quintela,Fernando Dutra
Llambí,Silvia
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Rodriguez,María Teresa Federici
Artigas,Rody
Guerra,Sofía
Sica,Andrea Branda
Vázquez,Noelia
Nicolini,Paula
Quintela,Fernando Dutra
Llambí,Silvia
dc.subject.por.fl_str_mv Bos taurus
Holstein
Brachyspina syndrome
real time PCR
melting curve analysis
topic Bos taurus
Holstein
Brachyspina syndrome
real time PCR
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.
publishDate 2021
dc.date.none.fl_str_mv 2021-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000900652
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000900652
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0103-8478cr20200872
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Universidade Federal de Santa Maria
publisher.none.fl_str_mv Universidade Federal de Santa Maria
dc.source.none.fl_str_mv Ciência Rural v.51 n.9 2021
reponame:Ciência Rural
instname:Universidade Federal de Santa Maria (UFSM)
instacron:UFSM
instname_str Universidade Federal de Santa Maria (UFSM)
instacron_str UFSM
institution UFSM
reponame_str Ciência Rural
collection Ciência Rural
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1749140556127141888

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