Detection of the Brachyspina mutation in Uruguayan Holstein cows using real time PCR and melting curve analysis. [Detecção da mutação da Brachyspina em vacas Holandês Uruguaias usando PCR em tempo real e análise da curva de fusão.]

ABSTRACT - Brachyspina syndrome (BS) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Fresian breed caused by a deletion of 3.3Kb in the Fanconi anemia complementation group I (FANCI) gene on BTA-21, which leads to a frame-shift and premature stop codon. Some of the consequences of BS are the reduction of the fertility rate and milk production. This study developed a simple, sensitive, rapid cost- effective assay method based on real time PCR and melting curve analysis for the detection of BS carrier animals.