Short Communication: Ligase Detection Reaction as a genotyping technique to identify cats carrying the c.1024G>T mutation on TRPV4 gene

Abstract One of the major issues in Scottish and Highland Fold cats is osteochondrodysplasia, a bone and cartilage development disorder. A point mutation in TRPV4 gene, associated to the ear-folded phenotype, is responsible of osteochondrodysplasia in those cat breeds. DNA amplification and genotyping by sequencing are currently the standard techniques to identify carrier animals. We developed a Ligase Detection Reaction technique, which is cheaper, more affordable and time saving analysis, obtaining 100% of correct genotyping and identification of all the fold animals as heterozygous for the c.1024G > T mutation. Ligase Detection Reaction can be used to determine the genotype of kittens even before the manifestation of the folded ears character. Despite the presence of the mutation, none of the fold animals presented clinical or radiographic signs of the disease. Thus, the association between the c.1024G > T genotype and osteochondrodysplasia, at least in young animals, is not evident. Further studies are required to fully evaluate this association.