Analysis of clinical samples from Doberman and Toy Poodle dogs with a targeted next-generation genotyping system

Next-generation sequencing (NGS) is a powerful tool to study DNA or RNA samples. New methods and protocols based on NGS have been developed to carry out the analysis of genetic variation for animal parentage testing, disease screening and trait detection. Targeted NGS is aimed at achieving targeted enrichment of genome subregions to reduced significantly the sequencing of genomic loci of interest, as well as costs and efforts, compared with whole-genome sequencing (WGS). We generated genotyping information of 387 targets from 95 clinical canine samples (76 Doberman and 19 Toy Poodle dogs) and 3 control samples using AgriSeq Targeted GBS. Based on these data, we calculated the exclusion power of 228 parentage markers with Cervus 3.0 software. Furthermore, we detected disease/trait markers presenting polymorphism and calculated their allele frequencies within each breed. In the case of parentage markers, the assigned parents showed a higher LOD score (>1.22 x1016), and the available pedigree data of offspring agreed with the assigned parent information. Interestingly, full siblings were also assigned like parents. On the other hand, we found 19 polymorphic disease/trait markers in the total sample, 3 of which (progressive rod-cone degeneration, von Willebrand disease 1 and dilated cardiomyopathy) were validated by pyrosequencing with 100% concordance. The mutant allele for cone-rod dystrophy3 (CRD3) was found in both groups, a variant which had not been reported in either breed to date. Sequencing of genomic loci of interest, costs and efforts can be reduced significantly with targeted NGS as compared with WGS. The AgriSeq Targeted GBS is a very good alternative for the massive genetic evaluation of animal populations.Fil: Arizmendi, Analía. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Hospital Escuela; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Rudd Garces, Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Peral Garcia, Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina37th International Society of Animal Genetics (ISAG) ConferenceLleidaEspañaInternational Society of Animal Genetics (ISAG

Métodos de genotipificación: Marco histórico del uso de marcadores. Información genética: clasificación y utilidades. Flujo de muestras. Técnicas de uso frecuente en forense. Técnicas de nueva generación

La genética forense es la especialidad que comprende la aplicación de técnicas de biología molecular para la identificación de individuos/razas/especies, con el fin de auxiliar en la resolución de casos judiciales. Para este fin es necesario determinar el genotipo de los individuos o de los restos biológicos que forman parte de la investigación, definiendo como genotipo al conjunto de información genética que posee un organismo. Dentro del genotipo, se analizan determinadas regiones que resultan informativas en la distinción de individuos/razas/especies, ya que las mismas presentan cambios en la secuencia de bases del material genético que generan variabilidad. Estas regiones se denominan polimórficas y cuentan con dos o más variantes en una población/especie, considerando que la variante menos frecuente no puede ser mantenida únicamente por mutación.Fil: Villegas Castagnasso, Egle Etel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Francisco, Elina Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Diaz, Silvina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Corbi Botto, Claudia Malena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Ripoli, María Verónica. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentin

Infected pancreatic necrosis: outcomes and clinical predictors of mortality. A post hoc analysis of the MANCTRA-1 international study

: The identification of high-risk patients in the early stages of infected pancreatic necrosis (IPN) is critical, because it could help the clinicians to adopt more effective management strategies. We conducted a post hoc analysis of the MANCTRA-1 international study to assess the association between clinical risk factors and mortality among adult patients with IPN. Univariable and multivariable logistic regression models were used to identify prognostic factors of mortality. We identified 247 consecutive patients with IPN hospitalised between January 2019 and December 2020. History of uncontrolled arterial hypertension (p = 0.032; 95% CI 1.135-15.882; aOR 4.245), qSOFA (p = 0.005; 95% CI 1.359-5.879; aOR 2.828), renal failure (p = 0.022; 95% CI 1.138-5.442; aOR 2.489), and haemodynamic failure (p = 0.018; 95% CI 1.184-5.978; aOR 2.661), were identified as independent predictors of mortality in IPN patients. Cholangitis (p = 0.003; 95% CI 1.598-9.930; aOR 3.983), abdominal compartment syndrome (p = 0.032; 95% CI 1.090-6.967; aOR 2.735), and gastrointestinal/intra-abdominal bleeding (p = 0.009; 95% CI 1.286-5.712; aOR 2.710) were independently associated with the risk of mortality. Upfront open surgical necrosectomy was strongly associated with the risk of mortality (p < 0.001; 95% CI 1.912-7.442; aOR 3.772), whereas endoscopic drainage of pancreatic necrosis (p = 0.018; 95% CI 0.138-0.834; aOR 0.339) and enteral nutrition (p = 0.003; 95% CI 0.143-0.716; aOR 0.320) were found as protective factors. Organ failure, acute cholangitis, and upfront open surgical necrosectomy were the most significant predictors of mortality. Our study confirmed that, even in a subgroup of particularly ill patients such as those with IPN, upfront open surgery should be avoided as much as possible. Study protocol registered in ClinicalTrials.Gov (I.D. Number NCT04747990)

von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina

von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G>A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argentina. We found a 0.41 frequency for the mutated allele, which varied significantly within families (family 1 = 0.43, family 2 = 0.58, unrelated animals = 0.35). The use of a popular founder male carrier of mutant allele A increased vWD incidence within a family and in the general population. The mode of inheritance was confirmed as autosomal dominant with incomplete penetrance. No differences were found between sexes and coat colors. Pyrosequencing was a good complement to clinical and coagulation tests for vWD type 1 diagnosis and a useful alternative for detecting the c.7437G>A mutation.Fil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentin

アルゼンチン・ブエノスアイレスにおける若年性汎発性ニキビダニ症の発症頻度

Juvenile generalized demodicosis (JGD) is a common condition in dogs, and is associated with genetic and immunological factors. It is not a contagious or zoonotic disease, however, it is a serious disease, being potentially dangerous to affected animal´s lives. JGD affects most breeds of dog, though the predisposition of certain breeds has been noted. In this study, we analyzed 499 records of the Small Animal Hospital (Faculty of Veterinarian Sciences, National University of La Plata, Argentina) covering the period 1998–2006. In all cases, the dogs tested were primarily considered have had some type of dermatological disease, and among them 28 cases were eventually diagnosed as demodectic mange. Twenty-eight out of 499 cases found juvenile generalized demodicosis. Coincident with the data reported by other research, this study evidenced that certain breeds, such as Boxer, German Shepherd and mixed breed dogs had a higher prevalence of JGD. These results support the hypothesis that certain breeds of dogs have a greater predisposition to JGD.若年性汎発性ニキビダニ症は犬で頻繁にみられる疾患であり，遺伝的素因や免疫学的素因が関与する疾患である。本症は伝染性疾患でも人獣共通感染症でもないが，重篤で時に生命予後に影響することもある。本症はあらゆる犬種に発症しうるが，一部の報告では好発犬種に関する記載が見られる。本報告では1998年から2006年までの間に，アルゼンチン・ラブラタ国立大学獣医学部附属小動物病院で記録された499例について解析した。全ての症例において，ニキビダニ症があらゆる皮膚疾患よりも初発したと考えられ，最終的には本症と診断された。499例中28例が若年性汎発性ニキビダニ症と診断された。他の研究データと比較したところ，本研究ではボクサー，ジャーマン・シェパードおよび雑種犬に，本症が好発することが示された。本研究の成果は，若年性汎発性ニキビダニ症が一部の犬種に好発するという仮説を支持するものと考えられた。Fil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico la Plata. Instituto de Genética Veterinaria "ingeniero Fernando Noel Dulout"; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico la Plata. Instituto de Genética Veterinaria "ingeniero Fernando Noel Dulout"; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: It, Veronica. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico la Plata. Instituto de Genética Veterinaria "ingeniero Fernando Noel Dulout"; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Peral Garcia, Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico la Plata. Instituto de Genética Veterinaria "ingeniero Fernando Noel Dulout"; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Castellano, Maria C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico La Plata. Instituto de Genética Veterinaria "Ingeniero Fernando Noel Dulout"; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico la Plata. Instituto de Genética Veterinaria "ingeniero Fernando Noel Dulout"; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; Argentin

DNA profile of dog feces as evidence to solve a homicide

Dog fecal samples were collected at the crime scene and from the shoes of the suspectto see whether they could be linked. DNA was genotyped using a 145 bp fragmentcontaining a 60 bp hotspot region of the mitochondrial DNA (mtDNA) control region.Once the species origin was identified, sequences were aligned with the 23 caninehaplotypes defined, showing that evidence and reference had 100% identity withhaplotype 5. The frequency of haplotype 5 and the exclusion power of the referencepopulation were 0.056 and 0.89, respectively. The forensic index showed that it was 20times more likely that the evidence belonged to the reference dog than to some otherunknown animal. The results support that the mtDNA hypervariable region 1 (HV1) isa good alternative for typing in trace or degraded casework samples when the STRpanel fails, and demonstrate the utility of domestic animal samples to give additionalinformation to solve human legal cases.Fil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria ; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria ; ArgentinaFil: Fameli, Alberto Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; ArgentinaFil: Posik, Diego Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria ; ArgentinaFil: Morales, Hernan Federico. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria ; ArgentinaFil: Peral Garcia, Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria ; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria ; Argentin

A study of the association between chronic superficial keratitis and polymorphisms in the upstream regulatory regions of DLA-DRB1, DLA-DQB1 and DLA-DQA1

Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occurs in German shepherd dogs (GSDs). Several studies support the hypothesis that CSK is an immune-mediated disease. To investigate the genetic factors associated with CSK development, the upstream regulatory regions (URRs) of the DLA-DRB, -DQA and -DQB genes were genotyped in 60 dogs, including 32 CSK animals. LD analysis identified two blocks (r2 ≤ 45), with two DLA-DRB1 and five DLA-DQB1 haplotypes. Analysis of DLA-URR alleles/haplotypes showed a significant association between DQB1*-154 [C/T] (p = 0.016) and CSK, suggesting that the T variant may increase the risk for developing CSK disease (OR = 3, 95% CI = 1.25–7.68). When haplotype associations were performed, the URR-DQB*CATT haplotype was significantly associated with CSK (p = 0.016), increasing the risk of develop this disease over two-fold (OR = 3, 95%, CI = 1.25–7.68). These results showed that dogs homozygous at DRB1*69 [C/T] had a risk for developing CSK disease that was over four times the risk for heterozygotes. This genetic association supports the previous clinical, histological and pharmacological studies that suggest that CSK is an immune-mediated disease, and this association could potentially be used to identify susceptible animals.Fil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Zapata, Gustavo. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Posik, Diego Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Diaz, Silvina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: It, Veronica. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Peral Garcia, Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; Argentin

Epidemiology of cranial cruciate ligament rupture and patellar luxation in dogs from the Province of Buenos Aires, Argentina

Objective The aim of this study was to investigate the prevalence of cranial cruciate ligament rupture and patellar luxation and the associated risk factors in dogs. Materials and Methods A total of 13,072 clinical records of dogs were reviewed from School Hospital (Faculty of Veterinary Sciences, National University of La Plata). Data of age, breed, sex, body weight, patellar luxation and cranial cruciate ligament rupture condition were registered. Chi-squared and Fisher's exact tests were used to compare the prevalence of cranial cruciate ligament rupture and patellar luxation with the variables and then univariable logistic regression was used to evaluate the risk of having cranial cruciate ligament rupture and patellar luxation. Multivariable logistic regression was used including all variables to assess the odds of having patellar luxation and cranial cruciate ligament rupture. Results Of 13,072 patients treated, 72 and 51 had cranial cruciate ligament rupture and patellar luxation respectively. Sex was not a major risk factor for either condition. Adult (odds ratio [OR] = 8.2) and senior (OR = 4.3) patients had increased risk of having cranial cruciate ligament rupture, while for patellar luxation age was not a risk factor. Groups 2, 3 and 8 were more likely to have cranial cruciate ligament rupture (OR = 5.5, OR = 9.1 and OR = 2.6), and group 11 had lower risk of having patellar luxation (OR = 0.08). Maxi (OR = 2.4) and giant (OR = 6.0) breeds had higher risk of having cranial cruciate ligament rupture, and medium and maxi breeds had higher risk of patellar luxation (OR = 0.05 and OR = 0.3). Multivariate OR test confirmed that age (adult), body size (giant and maxi) and breed group (Group 3) were significantly associated with having cranial cruciate ligament rupture, and age was associated with having patellar luxation. Clinical Significance This is the first epidemiological study of cranial cruciate ligament rupture and patellar luxation in dogs from School Hospital (Faculty of Veterinary Sciences, National University of La Plata). Giant and large adult dogs from the Molossoid and Terrier breeds were more likely to have cranial cruciate ligament rupture, while mixed and large dog breeds showed the lowest risk of having patellar luxation.Fil: Rudd Garces, Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Arizmendi, Analía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Hospital Escuela; ArgentinaFil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Morales, Hernan Federico. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Peral Garcia, Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Padula, Gisel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad Nacional de La Plata, Facultad de Ciencias Naturales y Museo; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentin

Naturally monozygotic quadruplets in a Braford cow confirmed by DNA analysis: A case report

Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observed. Although the number of twins has consistently increased, triplet and quadruplet pregnancies represent 0.015% and 0.004% of the total births, respectively. Multiple births are the result of multiple ovulation and/or the spontaneous cleavage of one fertilized oocyte, which is known as monozygotic (MZ) twinning. In cattle, approximately 5% to 14% of all twin births are MZ, and births with more than two MZ calves are extremely rare. Monozygotic animals are genetically identical, and those derived from two or more zygotes are genetically different. Furthermore, the presence of placental vascular anastomosis can result in foetal chimerism. Notwithstanding, animals born as single calves can be chimeras when one of the foetal twins dies undetected in utero. Here, we used DNA testing to study the zygotic condition of an unusual female quadruplet born from a Braford cow bred in a multi-sire natural mating system without hormone stimulation. Two tissues with different embryological origin were sampled to test zygosity and possible chimerism. The results showed an identical genotype, confirming they all originated in an MZ pregnancy and suggesting the lack of chimerism in all animals. The use of MZ twins in breeding and selection systems provides an alternative to the conventional progeny testing. Some works have suggested a genetic background of MZ twins in humans. This female and her daughters could be the founders of a lineage to study the possible inheritance of MZ multiple births in cattle.Fil: Rogberg Muñoz, Andres. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina. Universidad de Buenos Aires. Facultad de Agronomía. Departamento de Producción Animal; ArgentinaFil: Castillo, Nadia Sabiela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Zappa, María Eugenia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Villegas Castagnasso, Egle Etel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Gomez, Paula Macarena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Peral Garcia, Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentin

An inter-laboratory study of DNA-based identity, parentage and species testing in animal forensic genetics

The probative value of animal forensic genetic evidence relies on laboratory accuracy and reliability. Inter-laboratory comparisons allow laboratories to evaluate their performance on specific tests and analyses and to continue to monitor their output. The International Society for Animal Genetics (ISAG) administered animal forensic comparison tests (AFCTs) in 2016 and 2018 to assess the limitations and capabilities of laboratories offering forensic identification, parentage and species determination services. The AFCTs revealed that analyses of low DNA template concentrations (≤300 pg/µL) constitute a significant challenge that has prevented many laboratories from reporting correct identification and parentage results. Moreover, a lack of familiarity with species testing protocols, interpretation guidelines and representative databases prevented over a quarter of the participating laboratories from submitting correct species determination results. Several laboratories showed improvement in their genotyping accuracy over time. However, the use of forensically validated standards, such as a standard forensic short tandem repeat (STR) kit, preferably with an allelic ladder, and stricter guidelines for STR typing, may have prevented some common issues from occurring, such as genotyping inaccuracies, missing data, elevated stutter products and loading errors. The AFCTs underscore the importance of conducting routine forensic comparison tests to allow laboratories to compare results from each other. Laboratories should keep improving their scientific and technical capabilities and continuously evaluate their personnel’s proficiency in critical techniques such as low copy number (LCN) analysis and species testing. Although this is the first time that the ISAG has conducted comparison tests for forensic testing, findings from these AFCTs may serve as the foundation for continuous improvements of the overall quality of animal forensic genetic testing.Fil: Kanthaswamy, Sreetharan. Arizona State University; Estados Unidos. University of California at Davis; Estados UnidosFil: Brendel, Torsten. Eurofins Genomics Europe Applied Genomics GmbH; AlemaniaFil: Cancela, Luis. Identitas; UruguayFil: Andrade de Oliveira, Denise A.. Universidade Federal de Minas Gerais; BrasilFil: Brenig, Bertram. Universität Göttingen; AlemaniaFil: Cons, Carmen. Universidad de Zaragoza. Instituto Agroalimentario de Aragon; EspañaFil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; ArgentinaFil: Dajbychová, Markéta. Genomia s.r.o.; República ChecaFil: Feldl, Andreas. Eurofins Genomics Europe Applied Genomics GmbH; AlemaniaFil: Itoh, Tomohito. Livestock Improvement Association of Japan; JapónFil: Landi, Vincenzo. Università degli Studi di Bari; ItaliaFil: Martinez, Amparo. Universidad de Córdoba; EspañaFil: Natonek-Wisniewska, Malgorzata. National Research Institute of Animal Production; PoloniaFil: Oldt, Robert F.. Arizona State University; Estados Unidos. University of California at Davis; Estados UnidosFil: Radko, Anna. Vetgenomics S.L., Barcelona; EspañaFil: Ramírez, Oscar. Vetgenomics S.L., Barcelona; EspañaFil: Rodellar, Clementina. Universidad de Zaragoza. Instituto Agroalimentario de Aragon; EspañaFil: Ruiz Girón, Manuel. Hispalis Biolab S.L.U., Sevilla; EspañaFil: Schikorski, David. Laboratoire LABOFARM-GENINDEXE; FranciaFil: Turba, María Elena. Genefast SRL ; ItaliaFil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentin