Introduction:

the equine cerebellar abiotrophy is an autosomal recessive neurodegenerative disease. It has been more frequently described in the Arabian horse. The causative mutation produces a progressive degeneration of Purkinje cells.

Objectives:

developing a simple technique based on the high-resolution melt analysis (HRM) in order to identify the carriers of the mutation among a group of ancestors of an affected horse.

Material and methods:

DNA extraction of 93 blood samples from a group of related animals. Primers designed to amplify an 89 base pair sequence that contains the mutation. Amplification of the sequence and melting curves analysis.

Results:

the genealogical analysis confirms the autosomal recessive nature of disease. The amplification did not generate nonspecific fragments. The HRM analysis allowed the differentiation of healthy and affected homozygous genotypes, and also the differentiation of the carrier, heterozygous genotype. Our results concur with those obtained using the fragment analysis technique published in 2011.

Conclusion:

high resolution melting analysis is a simple technique that allows the detection of cerebellar abiotrophy carriers in horses.