Andrea Branda Sica

• National Institute of Agricultural Research of Uruguay

Background Most dairy cattle breeds originate show an average generational inbreeding rate of 1%, which favors the occurrence of recessive defects associated with low reproductive performance. Aim The objective of this study was to monitor recessive defects associated with low reproductive performance in dairy cattle. Methods To monitor bulls car...

The purpose of this study was to optimize a real-time PCR-melting analysis for reliable and economical detection of the 7.5 Kb mutant insert of the BoERVK bovine transposable element in exon 5 of the Apolipoprotein B (APOB) gene, which causes cholesterol deficiency — CD — (OMIA 001965-9913). This technique was also used to perform a preliminary mol...

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...

Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbreeding have decreased the breed’s fertility in recent decades...

The widespread use of artificial insemination has allowed the expansion of genetic progress. However, it also brought consequences such as the expansion of lethal hereditary diseases and the increase in inbreeding. The object of this study was to establish a fast and sensitive molecular assay to detect bovine leukocyte adhesion deficiency (BLAD) an...

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 extracte...

Deficiency in bovine leukocyte adhesion (BLAD) and arginosuccinate synthase enzyme (Citrullinemia) are autosomal recessive diseases that have been described worldwide in the Holstein breed. The objective of this study was to optimize and implement a methodology of genotyping for the identification of animals carrying the allele causing these diseas...

Resumen La deficiencia en la adhesión leucocitaria bovina (BLAD) y en la enzima arginosuccinato sintetasa (Citrulinemia) son enfermedades de herencia autosómica recesiva que han sido descritas a nivel mundial en la raza Holando. El objetivo de este estudio fue optimizar e implementar una metodología de genotipado para la identificación de animales...

The phenotype-genotype associations of a panel of SNP markers selected from candidate genes related to the growth hormone GH/ IGFIendocrine axis and the fatty acid synthesis and desaturation SCD/SREBP1 pathways, were examined. Phenotypes of interest were carcass composition, meat quality and fatty acid profiles of intramuscular fat in Hereford stee...

The phenotype-genotype associations of a panel of SNP markers selected from candidate genes related to the growth hormone GH/ IGF1endocrine axis and the fatty acid synthesis and desaturation SCD/SREBP1 pathways, were examined. Phenotypes of interest were carcass composition, meat quality and fatty acid profiles of intramuscular fat in Hereford stee...

Se realizó una validación preliminar de un panel de marcadores SNP seleccionados de genes candidatos, relacionados al eje endócrino que regulan la hormona de crecimiento GH/IGF1, y a la formación y desaturación de ácidos grasos SCD/SREBP1, con características de composición de canal, calidad de carne y perfil de ácidos grasos de la grasa intramuscu...

Introducción El INIA ha llevado adelante iniciativas innovadoras junto al sector productivo y sus gremiales tendientes a brindar nuevas herramientas para la mejora genética animal. El Banco de ADN Genómico Animal es una iniciativa establecida en conjunto con la Asociación Rural del Uruguay (ARU) con el objetivo de conservar el material genético de...

Meat quality is a term used to describe a range of attributes of meat. It is determined by genetic and environmental factors (slaughter age, feeding and pre and post-slaughter management). The current tendency is to study the candidate genes in order to develop molecular markers, which might be used for marker-assisted selection. The objective of t...

Meat quality is a term used to describe a range of attributes of meat. It is determined by genetic and environmental factors (slaughter age, feeding and pre and post-slaughter management). The current tendency is to study the candidate genes in order to develop molecular markers, which might be used for marker-assisted selection. The objective of t...

Meat tenderness is an important trait in beef cattle production, as consumers consider tenderness the most important attribute of beef palatability. There is ample evidence that post mortem proteolysis of myofibrillar proteins is responsible for the decline in shear force during storage. The bovine micromolar calcium-activated neutral protease (CAP...

The PPARGC1A gene (peroxysome proliferator-activated receptor-gamma coactivator 1alpha gene) controls muscle fiber type and brown adipocyte differentiation; therefore, it is a candidate gene for beef quality traits (tenderness and fat content). Two SNPs (Single Nucleotide Polymorphisms) were identified within exon 8 by multiple alignment of DNA seq...

Meat tenderness is an important trait in beef cattle production, as consumers consider tenderness the most important attribute of beef palatability. There is ample evidence that post mortem proteolysis of myofibrillar proteins is responsible for the decline in shear force during storage. The bovine micromolar calcium-activated neutral protease (CAP...