Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina

Autores
Caffaro, María Eugenia; Raschia, Maria Agustina; Amadio, Ariel; Poli, Mario Andres
Año de publicación
2019
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Generalized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in the GAA gene causing bovine generalized glycogenosis have been identified in two cattle breeds, Brahman and Shorthorn. The objective of this study was to evaluate the prevalence of carriers of the E7 mutation in the GAA gene in Argentinean Brahman-derived herds. A total of 930 Braford, 94 Brangus, and 8 Brahman samples were analyzed. The genotyping was done by polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP). We found that 12.02% (95% CI 12.00-12.04) of the total number of samples received were heterozygous (i.e., carriers) for the E7 mutation, while 12.58% (95% CI 12.56-12.60) of the Braford, 6.38% (95% CI 6.26-6.51) of the Brangus, and 12.50% (95% CI 9.82-15.18) of the Brahman samples were carriers of this loss-of-function allele. Neither breed nor sex were significantly associated to the presence of the mutation. The prevalence informed in this study is similar to the average prevalence reported for Australian Brahmans. The finding of heterozygous animals suggests that breeders and insemination centers should continue screening their herds to minimize the dissemination of this deleterious allele.
Instituto de Genética
Fil: Caffaro, Marí­a Eugenia. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina
Fil: Raschia, Maria Agustina. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina
Fil: Amadio, Ariel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Rafaela; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Poli, Mario Andres. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina
Fuente
Tropical Animal Health and Production : 1–6 (Agosto 2019)
Materia
Glycogenolysis
Lysosomes
Cattle Breeds
Diagnostic Techniques
Mutation Breeding
Carrier State
Glicogenolisis
Lisosomas
Raza Bovina
Técnicas de Diagnosis
PCR
Argentina
Mejoramiento por Mutación
Estado Portador
Raza Brahman
Raza Shorthorn
Nivel de accesibilidad
acceso restringido
Condiciones de uso
Repositorio
INTA Digital (INTA)
Institución
Instituto Nacional de Tecnología Agropecuaria
OAI Identificador
oai:localhost:20.500.12123/6628
Acceder
id INTADig_3466a8b2654eef1840284636c402dc6c
oai_identifier_str oai:localhost:20.500.12123/6628
network_acronym_str INTADig
repository_id_str l
network_name_str INTA Digital (INTA)
spelling Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in ArgentinaCaffaro, María EugeniaRaschia, Maria AgustinaAmadio, ArielPoli, Mario AndresGlycogenolysisLysosomesCattle BreedsDiagnostic TechniquesMutation BreedingCarrier StateGlicogenolisisLisosomasRaza BovinaTécnicas de DiagnosisPCRArgentinaMejoramiento por MutaciónEstado PortadorRaza BrahmanRaza ShorthornGeneralized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in the GAA gene causing bovine generalized glycogenosis have been identified in two cattle breeds, Brahman and Shorthorn. The objective of this study was to evaluate the prevalence of carriers of the E7 mutation in the GAA gene in Argentinean Brahman-derived herds. A total of 930 Braford, 94 Brangus, and 8 Brahman samples were analyzed. The genotyping was done by polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP). We found that 12.02% (95% CI 12.00-12.04) of the total number of samples received were heterozygous (i.e., carriers) for the E7 mutation, while 12.58% (95% CI 12.56-12.60) of the Braford, 6.38% (95% CI 6.26-6.51) of the Brangus, and 12.50% (95% CI 9.82-15.18) of the Brahman samples were carriers of this loss-of-function allele. Neither breed nor sex were significantly associated to the presence of the mutation. The prevalence informed in this study is similar to the average prevalence reported for Australian Brahmans. The finding of heterozygous animals suggests that breeders and insemination centers should continue screening their herds to minimize the dissemination of this deleterious allele.Instituto de GenéticaFil: Caffaro, Marí­a Eugenia. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; ArgentinaFil: Raschia, Maria Agustina. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; ArgentinaFil: Amadio, Ariel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Rafaela; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Poli, Mario Andres. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; ArgentinaSpringer2020-01-07T15:55:32Z2020-01-07T15:55:32Z2019-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttps://link.springer.com/article/10.1007%2Fs11250-019-02026-6http://hdl.handle.net/20.500.12123/66281573-7438https://doi.org/10.1007/s11250-019-02026-6Tropical Animal Health and Production : 1–6 (Agosto 2019)reponame:INTA Digital (INTA)instname:Instituto Nacional de Tecnología Agropecuariaenginfo:eu-repograntAgreement/INTA/PNBIO/1131033/AR./Genómica y biotecnología aplicada a la cría animal.info:eu-repo/semantics/restrictedAccess2025-10-16T09:29:44Zoai:localhost:20.500.12123/6628instacron:INTAInstitucionalhttp://repositorio.inta.gob.ar/Organismo científico-tecnológicoNo correspondehttp://repositorio.inta.gob.ar/oai/requesttripaldi.nicolas@inta.gob.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:l2025-10-16 09:29:44.288INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuariafalse
dc.title.none.fl_str_mv Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
title Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
spellingShingle Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
Caffaro, María Eugenia
Glycogenolysis
Lysosomes
Cattle Breeds
Diagnostic Techniques
Mutation Breeding
Carrier State
Glicogenolisis
Lisosomas
Raza Bovina
Técnicas de Diagnosis
PCR
Argentina
Mejoramiento por Mutación
Estado Portador
Raza Brahman
Raza Shorthorn
title_short Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
title_full Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
title_fullStr Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
title_full_unstemmed Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
title_sort Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
dc.creator.none.fl_str_mv Caffaro, María Eugenia
Raschia, Maria Agustina
Amadio, Ariel
Poli, Mario Andres
author Caffaro, María Eugenia
author_facet Caffaro, María Eugenia
Raschia, Maria Agustina
Amadio, Ariel
Poli, Mario Andres
author_role author
author2 Raschia, Maria Agustina
Amadio, Ariel
Poli, Mario Andres
author2_role author
author
author
dc.subject.none.fl_str_mv Glycogenolysis
Lysosomes
Cattle Breeds
Diagnostic Techniques
Mutation Breeding
Carrier State
Glicogenolisis
Lisosomas
Raza Bovina
Técnicas de Diagnosis
PCR
Argentina
Mejoramiento por Mutación
Estado Portador
Raza Brahman
Raza Shorthorn
topic Glycogenolysis
Lysosomes
Cattle Breeds
Diagnostic Techniques
Mutation Breeding
Carrier State
Glicogenolisis
Lisosomas
Raza Bovina
Técnicas de Diagnosis
PCR
Argentina
Mejoramiento por Mutación
Estado Portador
Raza Brahman
Raza Shorthorn
dc.description.none.fl_txt_mv Generalized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in the GAA gene causing bovine generalized glycogenosis have been identified in two cattle breeds, Brahman and Shorthorn. The objective of this study was to evaluate the prevalence of carriers of the E7 mutation in the GAA gene in Argentinean Brahman-derived herds. A total of 930 Braford, 94 Brangus, and 8 Brahman samples were analyzed. The genotyping was done by polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP). We found that 12.02% (95% CI 12.00-12.04) of the total number of samples received were heterozygous (i.e., carriers) for the E7 mutation, while 12.58% (95% CI 12.56-12.60) of the Braford, 6.38% (95% CI 6.26-6.51) of the Brangus, and 12.50% (95% CI 9.82-15.18) of the Brahman samples were carriers of this loss-of-function allele. Neither breed nor sex were significantly associated to the presence of the mutation. The prevalence informed in this study is similar to the average prevalence reported for Australian Brahmans. The finding of heterozygous animals suggests that breeders and insemination centers should continue screening their herds to minimize the dissemination of this deleterious allele.
Instituto de Genética
Fil: Caffaro, Marí­a Eugenia. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina
Fil: Raschia, Maria Agustina. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina
Fil: Amadio, Ariel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Rafaela; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Poli, Mario Andres. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina
description Generalized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in the GAA gene causing bovine generalized glycogenosis have been identified in two cattle breeds, Brahman and Shorthorn. The objective of this study was to evaluate the prevalence of carriers of the E7 mutation in the GAA gene in Argentinean Brahman-derived herds. A total of 930 Braford, 94 Brangus, and 8 Brahman samples were analyzed. The genotyping was done by polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP). We found that 12.02% (95% CI 12.00-12.04) of the total number of samples received were heterozygous (i.e., carriers) for the E7 mutation, while 12.58% (95% CI 12.56-12.60) of the Braford, 6.38% (95% CI 6.26-6.51) of the Brangus, and 12.50% (95% CI 9.82-15.18) of the Brahman samples were carriers of this loss-of-function allele. Neither breed nor sex were significantly associated to the presence of the mutation. The prevalence informed in this study is similar to the average prevalence reported for Australian Brahmans. The finding of heterozygous animals suggests that breeders and insemination centers should continue screening their herds to minimize the dissemination of this deleterious allele.
publishDate 2019
dc.date.none.fl_str_mv 2019-08
2020-01-07T15:55:32Z
2020-01-07T15:55:32Z
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://link.springer.com/article/10.1007%2Fs11250-019-02026-6
http://hdl.handle.net/20.500.12123/6628
1573-7438
https://doi.org/10.1007/s11250-019-02026-6
url https://link.springer.com/article/10.1007%2Fs11250-019-02026-6
http://hdl.handle.net/20.500.12123/6628
https://doi.org/10.1007/s11250-019-02026-6
identifier_str_mv 1573-7438
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repograntAgreement/INTA/PNBIO/1131033/AR./Genómica y biotecnología aplicada a la cría animal.
dc.rights.none.fl_str_mv info:eu-repo/semantics/restrictedAccess
eu_rights_str_mv restrictedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv Tropical Animal Health and Production : 1–6 (Agosto 2019)
reponame:INTA Digital (INTA)
instname:Instituto Nacional de Tecnología Agropecuaria
reponame_str INTA Digital (INTA)
collection INTA Digital (INTA)
instname_str Instituto Nacional de Tecnología Agropecuaria
repository.name.fl_str_mv INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuaria
repository.mail.fl_str_mv tripaldi.nicolas@inta.gob.ar
_version_ 1846143522013446144
score 12.712165

Publicaciones similares