title: Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease.
abstract: OBJECTIVE
  To develop a routine procedure for establishing the inherited congenital myoclonus (ICM) genotype of cattle and to obtain an estimate of the prevalence of heterozygotes for ICM and maple syrup urine disease (MSUD) in Australian Poll Herefords.
  
  
  METHODS
  A mismatch amplification procedure was developed to genotype for ICM. The ICM and MSUD genotypes of subjects from a 'neuraxial oedema' experimental breeding herd were investigated. Tail hair roots were used as a source of target DNA to determine the ICM and MSUD genotypes of 455 Poll Hereford bulls.
  
  
  RESULTS
  An Acc I mismatch procedure was found to be suitable to genotype cattle for the ICM alleles using tail hair roots as the source of DNA. Based on the prevalence of heterozygotes among saleyard and sale bulls in the early 1990s, and contemporary slaughter bulls, the frequencies of the alleles responsible for ICM and MSUD were estimated to be between 0.01 and 0.02.
  
  
  CONCLUSIONS
  This survey demonstrates that the mutations responsible for ICM and MSUD are present in the Australian Poll Hereford population. PCR tests could be used to advantage in differential diagnosis of neurological disease in newly born calves and in selection of Poll Hereford seed stock.
authors.forename: P J
authors.initials: PJ
authors.lastname: Healy
authors.forename: J A
authors.initials: JA
authors.lastname: Dennis
authors.forename: P A
authors.initials: PA
authors.lastname: Windsor
authors.forename: K D
authors.initials: KD
authors.lastname: Pierce
authors.forename: P A
authors.initials: PA
authors.lastname: Schofield
mesh_terms: D000818:Animals; D001315:Australia / Q000453:epidemiology; D002417:Cattle; D002418:Cattle Diseases / Q000453:epidemiology* / Q000235:genetics*; D017931:DNA Primers; D006580:Genetic Carrier Screening; D005838:Genotype; D006579:Heterozygote; D015994:Incidence; D008297:Male; D008375:Maple Syrup Urine Disease / Q000235:genetics / Q000662:veterinary*; D009207:Myoclonus / Q000235:genetics / Q000662:veterinary*; D016133:Polymerase Chain Reaction / Q000662:veterinary; D015995:Prevalence
chemical_list: D017931:DNA Primers