Invasive Species Compendium

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Abstract

Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.

Abstract

The organisation of the E1α subunit of bovine branched-chain α-keto acid dehydrogenase gene was established. cDNA was cloned from Poll Shorthorn × Poll Hereford calves affected with maple syrup urine disease to identify the mutation responsible for the disease in Poll Shorthorns. Clones containing the cDNA sequences inherited from the Poll Shorthorn sire of the affected calves were identified. Paternal clones were sequenced and a cytidine to thymidine transition was found at nucleotide 1380. The mutation is predicted to substitute leucine in place of a highly conserved proline at codon 372. A polymerase chain reaction procedure was developed for detection of the 1380C→T mutation in genomic DNA. Three Poll Shorthorn parents of affected calves and 3 affected Poll Shorthorn × Poll Hereford calves were heterozygous and an affected Poll Shorthorn calf was homozygous for this mutation. An improved polymerase chain reaction procedure was also devised to genotype Poll Herefords for the 248C→T mutation. It is concluded that these procedures will facilitate disease prevention programmes and assist in differential diagnosis of maple syrup urine disease is newborn.