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

Tropical Animal Health and Production
María Eugenia CaffaroMario Andrés Poli

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 breede...Continue Reading

References

Jan 1, 1975·Journal of Comparative Pathology·B W Manktelow, W J Hartley
Jan 1, 1969·Acta Neuropathologica·B SandströmP A Ockerman
May 1, 1981·Australian Veterinary Journal·B M O'SullivanC A Sewell
Nov 1, 1993·Australian Veterinary Journal·K G ReichmannE J Thistlethwaite
Nov 14, 1997·Proceedings of the National Academy of Sciences of the United States of America·A C McPherron, S J Lee
Mar 21, 2000·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J A DennisP J Healy
Jan 16, 2002·Australian Veterinary Journal·J A Dennis, P J Healy
Jun 21, 2002·Australian Veterinary Journal·R D Jolly
Jun 21, 2002·Australian Veterinary Journal·J A DennisK G Reichmann
May 26, 2007·Journal of Veterinary Medicine. A, Physiology, Pathology, Clinical Medicine·J CítekJ Hájková
Apr 25, 2009·Science·UNKNOWN Bovine Genome Sequencing and Analysis ConsortiumFeng-Qi Zhao
May 29, 2010·BMC Genomics·Stacey N MeyersTimothy P L Smith

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Datasets Mentioned

BETA
AF171666.1

Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

SPSS
GeneSnap

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