Abstract
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. Sixty-eight normal homozygous and four heterozygous carrier genotypes were detected and confirmed through traditional PCR- electrophoresis analysis. We concluded that the assay we have developed proved to be a reliable, highly precise and low-cost tool, which could be used to monitor the presence of the BS mutation in uruguayan Holstein breed.
Highlights
Brachyspina syndrome (BS) (OMIA, 2020) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Friesian breed. It is 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
Brachyspina syndrome is caused by a mutation in the FANCI gene (Fanconi Anemia complementation group I) that is located on the bovine chromosome BTA 21
We choose a small fragment on the gene CD 18* using the primers described by MIRK (1995), which were previously used to detect bovine leukocyte adhesion deficiency (BLAD) (Bovine Leucocyte Adhesion Deficiency), another recessive genetic disease present in uruguayan Holstein Friesian breed (BRANDA SICA, 2016)
Summary
Brachyspina syndrome (BS) (OMIA, 2020) is a rare monogenic autosomal recessive hereditary disorder of the Holstein Friesian breed (frequency of 0,06 in uruguayan cattle; ARTIGAS & FEDERICI, 2020). It is 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. It was first reported by AGELHOLM et al (2006) in Denmark, followed by AGERHOLM & PEPERKAMP (2007); TESTONI et al (2008) and ANGERHOLM et al (2010) in other countries like Netherlands, Italy, and Canada, respectively.
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