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Comparison of cytogenetics and polymerase chain reaction based detection of the amelogenin gene polymorphism for the diagnosis of freemartinism in cattle.

Abstract
A polymerase chain reaction (PCR) assay which detects a sex-based polymorphism in the bovine amelogenin locus was modified and compared to conventional cytogenetic analysis for diagnosis of freemartinism (XX/XY chimerism) in cattle. The PCR assay is more sensitive than cytogenetic analysis for detection of XY cells, with the limit of detection of the assay falling between 0.2% and 1% XY cells. Seventy-three heifer blood samples submitted for evaluation of freemartinism to the University of Minnesota Diagnostic Laboratory were tested using both cytogenetic and PCR techniques. Poor-quality samples precluded successful lymphocyte culture and recovery of mitotic nuclei for cytogenetic evaluation in 17 cases (23%). Two of these samples (2.7%) also failed to amplify with PCR. There was 100% agreement in the results from the 56 samples that were suitable for testing using both techniques. This PCR-based assay provides an alternative to the more laborious cytogenetic evaluation for diagnosis of freemartinism.
AuthorsElizabeth A McNiel, Nicole J Madrill, Amy E Treeful, Lance C Buoen, Alvin F Weber
JournalJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc (J Vet Diagn Invest) Vol. 18 Issue 5 Pg. 469-72 (Sep 2006) ISSN: 1040-6387 [Print] United States
PMID17037616 (Publication Type: Comparative Study, Journal Article)
Chemical References
  • Amelogenin
  • Dental Enamel Proteins
  • DNA
Topics
  • Amelogenin
  • Animals
  • Cattle
  • Cytogenetic Analysis (veterinary)
  • DNA (chemistry, genetics)
  • Dental Enamel Proteins (genetics)
  • Electrophoresis, Agar Gel (veterinary)
  • Female
  • Freemartinism (diagnosis, genetics)
  • Male
  • Polymerase Chain Reaction (methods, veterinary)
  • Polymorphism, Genetic
  • Sensitivity and Specificity
  • X Chromosome (genetics)
  • Y Chromosome (genetics)

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