Heterozygote detection for maple syrup urine disease in cattle

SUMMARY The clinical, pathological and biochemical manifestations of maple syrup urine disease (MSUD) are similar in Poll Hereford and Poll Shorthorn X Poll Hereford calves. No significant differences were observed in branched-chain amino acid concentrations in plasma, or of branched-chain keto acid dehydrogenase activity in fibroblasts, between Poll Herefords homozygous normal and heterozygous for the mutation responsible for MSUD. Haemopoietic chimerism resulted in incorrect diagnosis of the MSUD genotype in 30% of non-identical twins when blood DNA was analysed using allele-specific amplification. Hair roots are shown to be a suitable source of target DNA for genotyping Poll Hereford cattle for the MSUD mutation. Twelve of 203 (5.8%) aged Poll Hereford bulls, sampled at saleyards during the last 4 months of 1993, were found to be heterozygous for the mutation. In contrast, the mutant sequence was detected in only 1 of 150 (0.7%) 2- and 3-year-old Poll Hereford bulls offered for sale at 2 stud sales held during 1993, suggesting that the prevalence of the disease may decline over the next few years.