title: Molecular heterogeneity for bovine maple syrup urine disease.
abstract: In Poll Herefords, it is known that maple syrup urine disease results from a nonsense mutation in codon -6 of the gene for the E1 alpha subunit of branched-chain alpha-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.
authors: Elizabeth Macarthur Agricultural Institute, New South Wales, Australia.
authors: P J
authors: PJ
authors: Healy
authors: J A
authors: JA
authors: Dennis
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D016384:Consensus Sequence; D004247:DNA / Q000097:blood / Q000235:genetics; D017931:DNA Primers; D006580:Genetic Carrier Screening; D007438:Introns; D007658:Ketone Oxidoreductases / Q000235:genetics*; D046911:Macromolecular Substances; D008375:Maple Syrup Urine Disease / Q000235:genetics / Q000662:veterinary*; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D046911:Macromolecular Substances; D009097:Multienzyme Complexes; D004247:DNA; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)