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Molecular heterogeneity for bovine maple syrup urine disease
Author(s) -
Healy P. J.,
Dennis J. A.
Publication year - 1994
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.1994.tb00366.x
Subject(s) - maple syrup urine disease , shorthorn , biology , allele , breed , nonsense mutation , genetics , genotype , mutation , gene , missense mutation , amino acid , leucine
Summary In Poll Herefords, it is known that maple syrup urine disease results from a nonsense mutation in codon ‐6 of the gene for the Elα subunit of branched‐chain α‐keto acid dehydrogenase. The disease also occurs in Poll Shorthorns, but its molecular basis in this breed has not yet been determined. Allele‐specific hybridization and allele‐specific amplification, both based on the Poll Hereford mutation, failed to detect the mutant allele in Poll Shorthorn heterozygotes, and detected the normal allele in affected Poll Hereford‐cross‐Poll Shorthorn calves. These results demonstrate between breed molecular heterogeneity for bovine maple syrup urine disease.