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2 results on '"Federici, Mt"'

1. Identification of Holstein heifer’s carriers BLAD and Citrullinemia in the eastern region of Uruguay by PCR-RFLP and sequencing

Author

Branda, A, Federici, MT, Dutra, F, Romero, A, Briano, C, Dalla, M, and Llambí, S

Subjects
Bovinos de leche, Citrullinemia, Genotyping, Lethal hereditary diseases, Genotipado, BLAD, Dairy cattle, Citrulinemia, Enfermedades hereditarias letales
Abstract

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 portadores de los alelos causantes de estas enfermedades en una población cohorte de terneras de recría de la raza Holando de la cuenca lechera de Cerro Largo. Las muestras de ADN de 190 terneras Holando fueron extraídas a partir de sangre fresca, siguiendo normas y protocolos del Banco de ADN de la Unidad de Biotecnología INIA Las Brujas. El genotipado fue realizado mediante análisis PCR-RFLP con las enzimas de restricción TaqI para BLAD y Eco47I (AvaII) para Citrulinemia. La confirmación del genotipado fue evaluada mediante secuenciación de los productos amplificados de ambas enfermedades. Se detectó la presencia del alelo mutante para BLAD en una sola ternera de recría y no se encontró portadoras de Citrulinemia en la población analizada. Este trabajo representó el primer relevamiento de la prevalencia génica de las enfermedades BLAD y Citrulinemia en la región Este del Uruguay Summary 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 diseases in a population cohort of calves Holstein of dairy farm in Uruguay basin. DNA samples from 190 Holstein calves were extracted from fresh blood following rules and protocols DNA Bank Unit Biotechnology INIA Las Brujas. Genotyping was performed by PCR-RFLP analysis with restriction enzymes TaqI for BLAD and Eco47I (AvaII) for Citrullinemia. Results of RFLP genotyping were confirmed by sequencing of the amplified products of both diseases. The presence of the BLAD mutant allele was detected in only one calf while no Citrullinemia carriers were found in the analyzed population. This study represented the first survey of the prevalence of BLAD and Citrullinemia diseases of dairy cattle in the eastern region of Uruguay

Published
2016

2. Monitoring of recessive defects associated with low reproductive performance in dairy cattle in Uruguay.

Author

Branda-Sica A, Artigas R, de Torres E, Kinley E, Nicolini P, Federici MT, and Llambí S

Subjects
Pregnancy, Female, Cattle genetics, Animals, Male, Uruguay, Genotype, Haplotypes, Fertility genetics
Abstract

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 carrying the Holstein Friesian haplotype (HH) 1, HH3, and HH4 haplotypes, we analyzed the records of 3,028 national and imported Holstein Friesian bulls from the 2021 updated sires' catalog published by "Evaluaciones Genéticas Lecheras"; and to determine the presence of these mentioned haplotypes, as well as Jersey haplotype (JH) 1 and complex vertebral malformation (CVM), were genotype with the GeneTitan ® 2,500 single nucleotide polymorphism (SNP) bovine chip, estimate their frequencies and evaluate their impact on the fertility of 100 Holstein Friesian cows and 70 Holstein Friesian-Jersey crosses belonging to an experimental dairy., Results: From a total of 1,468 (48.5%) bulls with genetic information from the sires' catalog for HH1 and 1,471 (48.6%) for HH3 and HH4, we found 90 (6.1%) carriers for HH1, 60 (4.1%) for HH3, and 6 (0.4%) for HH4, respectively. By genotyping with the chip, we calculated the herd frequency of the mutant alleles and herd prevalence of carriers for HH1 and CVM as q = 0.003 and 0.022; 0.59% and 4.3% (call rate >0.99), respectively. No mutant alleles were found for HH3, HH4, and JH1 in the analyzed population. We examined reproductive data by observing the presence of CVM and HH1 mutant alleles in repeat cows with an average of four services to achieve pregnancy., Conclusion: This study demonstrated the presence of recessive defects associated with low reproductive performance in the analyzed population, which can affect the health and productivity of dairy cattle. Therefore, cows and bulls should be closely monitored through genetic testing to lower the incidence of recessive defects in dairy cattle., Competing Interests: The authors declare that there is no conflict of interest regarding the publication of this article.

Published
2023
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