Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.3389/fvets.2022.822224 http://hdl.handle.net/11449/234251 |
Resumo: | APAF1 is an autosomal recessive inherited mutation, associated with Holstein haplotype 1 (HH1) and characterized by a substitution of cytosine for a thymine (c.1741C>T) in chromosome 5. The mutation causes fetal and embryonic loss, between 60 and 200 days of gestation, and reduced conception rate. The ARMS-PCR is considered a simple and low-cost method to determine single nucleotide polymorphism (SNP) with no need for genetic sequencing of the animal genome. This study aimed to verify the allelic frequency of APAF1 mutation in Brazilian Holstein cattle. A total of 248 Holstein DNA samples (210 cows and 38 bulls) were analyzed, and synthetic genes were manufactured to validate the primers developed by the authors. All animals assessed in this study were classified as wild-type for APAF1 mutation. The primers and protocol developed for the ARMS-PCR technique work with 100% specificity and efficiency since the amplicon formations are as expected according to the genotypes. In conclusion, the mutation responsible for APAF1 was not detected in the Brazilian Holstein cattle population assessed in this prevalence study, although it is not possible to affirm that APAF1 does not occur in Brazilian Holstein animals. The tetra-primer ARMS-PCR protocol for APAF1 mutation that has been validated here may be a relatively simple and economical method to determine the animals' genotype. |
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Allele Frequency of APAF1 Mutation in Holstein Cattle in BrazilAPAF1ARMS-PCRBos taurusHolsteinmutationAPAF1 is an autosomal recessive inherited mutation, associated with Holstein haplotype 1 (HH1) and characterized by a substitution of cytosine for a thymine (c.1741C>T) in chromosome 5. The mutation causes fetal and embryonic loss, between 60 and 200 days of gestation, and reduced conception rate. The ARMS-PCR is considered a simple and low-cost method to determine single nucleotide polymorphism (SNP) with no need for genetic sequencing of the animal genome. This study aimed to verify the allelic frequency of APAF1 mutation in Brazilian Holstein cattle. A total of 248 Holstein DNA samples (210 cows and 38 bulls) were analyzed, and synthetic genes were manufactured to validate the primers developed by the authors. All animals assessed in this study were classified as wild-type for APAF1 mutation. The primers and protocol developed for the ARMS-PCR technique work with 100% specificity and efficiency since the amplicon formations are as expected according to the genotypes. In conclusion, the mutation responsible for APAF1 was not detected in the Brazilian Holstein cattle population assessed in this prevalence study, although it is not possible to affirm that APAF1 does not occur in Brazilian Holstein animals. The tetra-primer ARMS-PCR protocol for APAF1 mutation that has been validated here may be a relatively simple and economical method to determine the animals' genotype.São Paulo State University (UNESP) School of Veterinary Medicine and Animal ScienceSchool of Veterinary Science Universidade Estadual do Norte do Paraná (UENP)São Paulo State University (UNESP) School of Veterinary Medicine and Animal ScienceUniversidade Estadual Paulista (UNESP)Universidade Estadual do Norte do Paraná (UENP)Albertino, Lukas Garrido [UNESP]Albuquerque, Ana Luísa Holanda [UNESP]Ferreira, Julia Franco [UNESP]Oliveira, João Pedro Marmol [UNESP]Borges, Alexandre Secorun [UNESP]Patelli, Thais Helena ConstantinoOliveira-Filho, José Paes [UNESP]2022-05-01T15:13:39Z2022-05-01T15:13:39Z2022-02-23info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.3389/fvets.2022.822224Frontiers in Veterinary Science, v. 9.2297-1769http://hdl.handle.net/11449/23425110.3389/fvets.2022.8222242-s2.0-85126186704Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengFrontiers in Veterinary Scienceinfo:eu-repo/semantics/openAccess2022-05-01T15:13:39Zoai:repositorio.unesp.br:11449/234251Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T23:18:44.588805Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
title |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
spellingShingle |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil Albertino, Lukas Garrido [UNESP] APAF1 ARMS-PCR Bos taurus Holstein mutation |
title_short |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
title_full |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
title_fullStr |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
title_full_unstemmed |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
title_sort |
Allele Frequency of APAF1 Mutation in Holstein Cattle in Brazil |
author |
Albertino, Lukas Garrido [UNESP] |
author_facet |
Albertino, Lukas Garrido [UNESP] Albuquerque, Ana Luísa Holanda [UNESP] Ferreira, Julia Franco [UNESP] Oliveira, João Pedro Marmol [UNESP] Borges, Alexandre Secorun [UNESP] Patelli, Thais Helena Constantino Oliveira-Filho, José Paes [UNESP] |
author_role |
author |
author2 |
Albuquerque, Ana Luísa Holanda [UNESP] Ferreira, Julia Franco [UNESP] Oliveira, João Pedro Marmol [UNESP] Borges, Alexandre Secorun [UNESP] Patelli, Thais Helena Constantino Oliveira-Filho, José Paes [UNESP] |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (UNESP) Universidade Estadual do Norte do Paraná (UENP) |
dc.contributor.author.fl_str_mv |
Albertino, Lukas Garrido [UNESP] Albuquerque, Ana Luísa Holanda [UNESP] Ferreira, Julia Franco [UNESP] Oliveira, João Pedro Marmol [UNESP] Borges, Alexandre Secorun [UNESP] Patelli, Thais Helena Constantino Oliveira-Filho, José Paes [UNESP] |
dc.subject.por.fl_str_mv |
APAF1 ARMS-PCR Bos taurus Holstein mutation |
topic |
APAF1 ARMS-PCR Bos taurus Holstein mutation |
description |
APAF1 is an autosomal recessive inherited mutation, associated with Holstein haplotype 1 (HH1) and characterized by a substitution of cytosine for a thymine (c.1741C>T) in chromosome 5. The mutation causes fetal and embryonic loss, between 60 and 200 days of gestation, and reduced conception rate. The ARMS-PCR is considered a simple and low-cost method to determine single nucleotide polymorphism (SNP) with no need for genetic sequencing of the animal genome. This study aimed to verify the allelic frequency of APAF1 mutation in Brazilian Holstein cattle. A total of 248 Holstein DNA samples (210 cows and 38 bulls) were analyzed, and synthetic genes were manufactured to validate the primers developed by the authors. All animals assessed in this study were classified as wild-type for APAF1 mutation. The primers and protocol developed for the ARMS-PCR technique work with 100% specificity and efficiency since the amplicon formations are as expected according to the genotypes. In conclusion, the mutation responsible for APAF1 was not detected in the Brazilian Holstein cattle population assessed in this prevalence study, although it is not possible to affirm that APAF1 does not occur in Brazilian Holstein animals. The tetra-primer ARMS-PCR protocol for APAF1 mutation that has been validated here may be a relatively simple and economical method to determine the animals' genotype. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-05-01T15:13:39Z 2022-05-01T15:13:39Z 2022-02-23 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.3389/fvets.2022.822224 Frontiers in Veterinary Science, v. 9. 2297-1769 http://hdl.handle.net/11449/234251 10.3389/fvets.2022.822224 2-s2.0-85126186704 |
url |
http://dx.doi.org/10.3389/fvets.2022.822224 http://hdl.handle.net/11449/234251 |
identifier_str_mv |
Frontiers in Veterinary Science, v. 9. 2297-1769 10.3389/fvets.2022.822224 2-s2.0-85126186704 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Frontiers in Veterinary Science |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808129506707243008 |