Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
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 tw...
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| Format: | info:ar-repo/semantics/artículo |
| Language: | Inglés |
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Springer
2020
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| Online Access: | 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 |
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| author | Caffaro, María Eugenia Raschia, Maria Agustina Amadio, Ariel Poli, Mario Andres |
| author_browse | Amadio, Ariel Caffaro, María Eugenia Poli, Mario Andres Raschia, Maria Agustina |
| author_facet | Caffaro, María Eugenia Raschia, Maria Agustina Amadio, Ariel Poli, Mario Andres |
| author_sort | Caffaro, María Eugenia |
| collection | INTA Digital |
| 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. |
| format | info:ar-repo/semantics/artículo |
| id | INTA6628 |
| institution | Instituto Nacional de Tecnología Agropecuaria (INTA -Argentina) |
| language | Inglés |
| publishDate | 2020 |
| publishDateRange | 2020 |
| publishDateSort | 2020 |
| publisher | Springer |
| publisherStr | Springer |
| record_format | dspace |
| spelling | INTA66282020-01-07T16:01:09Z Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina Caffaro, María Eugenia Raschia, Maria Agustina Amadio, Ariel Poli, Mario Andres 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 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 2020-01-07T15:55:32Z 2020-01-07T15:55:32Z 2019-08 info:ar-repo/semantics/artículo info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 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 eng info:eu-repograntAgreement/INTA/PNBIO/1131033/AR./Genómica y biotecnología aplicada a la cría animal. info:eu-repo/semantics/restrictedAccess application/pdf Springer Tropical Animal Health and Production : 1–6 (Agosto 2019) |
| spellingShingle | 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 Caffaro, María Eugenia Raschia, Maria Agustina Amadio, Ariel Poli, Mario Andres Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina |
| title | 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_short | Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina |
| title_sort | generalized glycogenosis in brahman derived breeds diagnosis and prevalence in argentina |
| 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 |
| 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 |
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