Cattle Screening and Detection of Recessive Mutations in Uruguayan Holstein Breed

FEDERICI M.T.; ARTIGAS R.; SICA A.B.; ROGBERG MUÑOZ A.; GIOVAMBATTISTA G.; LLAMBÍ S.

San Diego

Congreso; Plant and Animal Genome Conference (PAGXXVII); 2019

Plant and Animal Genome Conference

The objective of this study was to screen the recessive alleles for the Complex Vertebral Malformation (CVM) and Syndactyly (SYN) in the Uruguayan Holstein breed by means of the reported genomic information of the bulls used in Uruguayan genetic breeding programs and arecently developed 50K customized microarray (ArBos1), which was used to screen a reference cow population. ArBos1 uses Axiom technology (Affymetrix) and includes SNP and INDEL for the diagnostic tests from 37 of the most common genetic disorders found in cattle breeds. Wescreened for these genetic tests in bulls previously used as fathers and have at least one daughter included in the Uruguayan dairy Breeding and Control Programs. For that purpose, we used at least three international databases (www.holsteinusa.com, www.sires.com and www.bullsearch.abs.global.com). We found that genetic tests for CVM and SYN were only available for 12% (312/2,606) and 0.2% (5/2,606) of bulls with progeny Uruguayan registry. From those, 18% (55/312) were found to be CVM heterozygous carriers and 20% (1/5) were found SYN heterozygous carriers. Using ArBos1, we detected both CVM and SYN carrier cows in the above-mentioned reference population. The high percentage of heterozygous carriers found in the bulls registered in genetic dairy catalogs, as well as the preliminary results of the cow population, show that both genetic disorders need to be monitored in dairy farms, in order to prevent the spread of the recessive alleles. Additionally, ArBos1 has proved to be a valuable and precise tool in the screening of genetic disorders.