Genotipado de SNPs relacionados con enfermedades hereditarias en terneras Holando utilizando el panel GGP-BovineLDv3

The objective of this study consisted in a screening of the main hereditary diseases BLAD, DUMPs and Citrullinaemia using the GGP-BovineLDv3 panel in a representative population of Holstein heifers of the eastern area of Uruguay, as well as the analysis of BLAD mutant allele frequency since it was first reported in Uruguay in 2003. DNA was extracted from fresh blood of 190 Holstein heifers in the dairy area of Cerro Largo (Uruguay) and genotyped using the above mentioned panel, thus validating previously used techniques, suhc as PCR- RFLP and PCR- sequencing. We detected the presence of the BLAD mutant allele in one heifer, and allele frequency was estimated as 0.28%. Reported frequencies of BLAD allele during the last 15 years were compared and the reported studies revealed that the frequency progressively decreased and fell to zero in 2018, which can be due to the use of genotyped semen free of these diseases during the last years. No mutant alleles were found for DUMPs or Citrulinaemia. The use of low-density panels would be a useful tool to develop breeding strategies in dairly farms and to monitor hereditary diseases in Holstein breed. Keywords: Dairy cattle, diagnosis, genetic disorder, panel.