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

Abstract

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.

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Acknowledgments

We thank the Argentinean Braford Association, and private breeders, seed stock companies, and insemination centers from Argentina for trusting our work and for sending their samples to us for analysis.

Funding

This work was supported by the Instituto Nacional de Tecnología Agropecuaria (INTA—grant PNBIO1131033) and by the owners of the animals analyzed, who paid for the service of carrier status diagnosis.

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Correspondence to María Eugenia Caffaro or María Agustina Raschia.

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Caffaro, M.E., Raschia, M.A., Amadio, A.F. et al. Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina. Trop Anim Health Prod 52, 483–488 (2020). https://doi.org/10.1007/s11250-019-02026-6

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  • DOI: https://doi.org/10.1007/s11250-019-02026-6

Keywords

  • Glycogenesis type II
  • Lysosomal acidic 1,4-α-glucosidase
  • E7 mutation
  • Carrier status