Farmacogenética del "CYP2D6" en la población argentina general y judía Ashkenazi
- Moya Laborde, Graciela Elena
Introducción CYP2D6 ha sido demostrada en numerosas poblaciones. Esta información puede ser de relevancia para mejorar la eficacia y seguridad del tratamiento farmacológico. La población argentina es de origen étnico muy variado, existiendo pocos estudios que hayan caracterizado las frecuencias alélicas y genotípicas del CYP2D6 en la misma, y las diferencias entre algunos de sus grupos étnicos. Objetivo El objetivo general de la presente Tesis fue analizar la variabilidad interétnica de los polimorfismos genéticos del CYP2D6 en dos subpoblaciones argentinas, una de origen multiétnico y otra referida con ascendencia judía Ashkenazi. Adicionalmente comparar estas frecuencias con las presentes en otras...
Environmental chemicals and DNA methylation in adults: a systematic review of the epidemiologic evidence
- Ruiz-Hernandez, Adrian; Kuo, Chin-Chi; Rentero-Garrido, Pilar; Tang, Wan-Yee; Redon, Josep; Ordovas, Jose M; Navas-Acien, Ana; Tellez-Plaza, Maria
Current evidence supports the notion that environmental exposures are associated with DNA-methylation and expression changes that can impact human health. Our objective was to conduct a systematic review of epidemiologic studies evaluating the association between environmental chemicals with DNA methylation levels in adults. After excluding arsenic, recently evaluated in a systematic review, we identified a total of 17 articles (6 on cadmium, 4 on lead, 2 on mercury, 1 on nickel, 1 on antimony, 1 on tungsten, 5 on persistent organic pollutants and perfluorinated compounds, 1 on bisphenol A, and 3 on polycyclic aromatic hydrocarbons). The selected articles reported quantitative...
Applications of CRISPR-Cas9 mediated genome engineering
- Yang, Xiao
Targeted mutagenesis based on homologous recombination has been a powerful tool for understanding the mechanisms underlying development, normal physiology, and disease. A recent breakthrough in genome engineering technology based on the class of RNA-guided endonucleases, such as clustered regularly interspaced short palindromic repeats (CRISPR)-associated Cas9, is further revolutionizing biology and medical studies. The simplicity of the CRISPR-Cas9 system has enabled its widespread applications in generating germline animal models, somatic genome engineering, and functional genomic screening and in treating genetic and infectious diseases. This technology will likely be used in all fields of biomedicine, ranging from basic research to human gene...
Expression of tropomyosin in relation to myofibrillogenesis in axolotl hearts
- Zajdel, Robert W; McLean, Matthew D; Dube, Syamalima; Dube, Dipak K
The anatomy, function and embryonic development of the heart have been of interest to clinicians and researchers alike for centuries. A beating heart is one of the key criteria in defining life or death in humans. An understanding of the multitude of genetic and functional elements that interplay to form such a complex organ is slowly evolving with new genetic, molecular and experimental techniques. Despite the need for ever more complex molecular techniques some of our biggest leaps in knowledge come from nature itself through observations of mutations that create natural defects in function. Such a natural mutation is found...
Tick-borne encephalitis: A review of epidemiology, clinical characteristics, and management
- Bogovic, Petra; Strle, Franc
Tick-borne encephalitis is an infection of central nervous system caused by tick-borne encephalitis virus transmitted to humans predominantly by tick bites. During the last few decades the incidence of the disease has been increasing and poses a growing health problem in almost all endemic European and Asian countries. Most cases occur during the highest period of tick activity, in Central Europe mainly from April to November. Tick-borne encephalitis is more common in adults than in children. Clinical spectrum of the disease ranges from mild meningitis to severe meningoencephalitis with or without paralysis. Rare clinical manifestations are an abortive form of...
Mutations in the BLOC-1 Subunits Dysbindin and Muted Generate Divergent and Dosage-dependent Phenotypes*
- Larimore, Jennifer; Zlatic, Stephanie A.; Gokhale, Avanti; Tornieri, Karine; Singleton, Kaela S.; Mullin, Ariana P.; Tang, Junxia; Talbot, Konrad; Faundez, Victor
Background: Genetic defects affecting subunits of protein complexes are presumed to generate identical diseases in mammals.
NÚCLEO de Biotecnologia Aplicada a Cereais de Inverno: NBAC - Embrapa Trigo.
Genética molecular; Biologia celular; Cultivo de trigo in vitro para obtenção de plantas duplo-haplóides; Tranformação genética; Citogenética molecular; Bioinformática.
Determinación de la frecuencia de los transcritos de fusión de BCR-ABL (e1a2,b2a2 y b3a2) por RT-PCR en muestras de médula ósea procedentes de pacientes con leucemia mieloide crónica (LMC) y leucemia linfoblástica aguda tipo B (LLA-B)
- Morales, Oneida; Carranza, Claudia; Saravia, Patricia
Determination of the frequency of the fusion transcripts in bone marrow from patients withchronic myeloid leukemia (CML) and acute lymphoblastic leukemia type B (B-ALL).AbstractAt the molecular level translocation t(9;22) (q34, q11), known as the Philadelphia chromosome (Ph +),originates chimeric gene BCR-ABL coding for the expression of three fusion transcripts corresponding tob2a2, b3a2 and e1a2 . It has been shown that there is a relationship between the type of transcript pathologicaland clinical-demographic characteristics of leukemic patients. In Guatemala, there are no data regarding thefrequency of BCR-ABL transcripts in the diagnosis of leukemia, so now the genetic characterization of leukemicGuatemalan population with...
Genetic evaluation by animal model techniques of first lactation length and mean daily milk yield of the Caracu breed
- Quirino, Célia Raquel; Perer, J. C.; Pereira, S.; Bergmann, Jose Aurelio
The objective of this study was to estimate genetic and environmental effects on first
lactation length (DL) and daily milk production (PDL) of Caracu Criollo cows of the Recreio Farm herd in Poços de Caldas, State of Minas Gerais. Data from 1 323 lactations of cows that calved from 1983 to 1990, were analysed by least squares methods for data with unequal subclass numbers. Least squares means and standard errors were 289.7 ± 7 days for DL and 4.95 ± 0.12 kg for PDL. The fixed effects of season and year of parturition were significant (P
Molecular characterization of parasite resistant/susceptible Uruguayan Merino lambs
- Ciappesoni, Carlos Gabriel; Nicolini, Paola; Kelly, Lucia; Grasso, Nicolás; Peraza, Pablo; Cabrera, Andrea; Goldberg, Virginia
Gastrointestinal parasites (GIP) are one of the main sanitary and economic limitations for Uruguayan sheep production. Many authors suggest a possible relationship between microsatellites and sheep parasite resistance. Based on extreme fecal worm egg count-expected progeny difference (FECEPD), 50 resistant (R) and 50 susceptible (S) lambs were chosen from a Merino flock. In order to investigate the genetic variability and structure in this flock, four polymorphic microsatellites (McM214, McM130, McM357 and CSRD2138) which are potentially associated with quantitative trait loci (QTL) for parasite resistance were analyzed. The number of alleles varied from 8 to 13 showing different frequencies; polymorphic information...
Development of breeding goals for a dairy production system based on pastures, using a bio-economic simulation model
- Rivero Viera, Myriam Jordana; Urioste Aguerre, Jorge Ignacio; Astigarraga Fernandez, Maria Laura; Rovere de Maio, Gabriel Alejandro
Breeding goals for a dairy herd were developed by combining several of the traits of greatest economic impact on dairy farms; and a selection criterion based on the information available from genetic evaluations. A theoretical production system of 250 cows with a mean adult liveweight of 570 kg each, producing 5 000 L of milk, 173 kg of fat, and 163 kg of protein in 305 d was simulated. Feeding was based on grazing sown pastures, plus silage (maize and sorghum) and supplemental maize grain. The derivation of economic values of traits in the breeding goal was accomplished using a...
Simulation of marker assisted selection strategies in beef cattle
- Macor, Laura; Monterubbianesi, Maria Gloria; Corva, Pablo Marcelo
Marker-assisted selection (MAS) has been presented as a promising tool for animal breeding, but its application in beef cattle is still very limited. The technology is still expensive and the way to combine molecular information with more traditional breeding strategies has not been well defined. In order to evaluate MAS strategies, a simulation study was conducted. A beef cattle herd was simulated, in which selection was practiced to improve weaning weight. Three molecular markers with effect on weaning weight explained 40% of the additive variance. Four strategies were compared: mass selection based on phenotypes, marker-assisted selection, selection with animal model...
Comparison of growth curves in male and female goat kids of Saanen and of ⅞ Boer breeding during the suckling phase
- Figueiredo Souza, Samuel; da Silva Morais, Juciléia Aparecida; Jácome de Araújo, Marcos; Boaventura Neto, Oscar; Germano Costa, Roberto; Resende, Kleber Tomas; Franco Oliveira, Maria Emília; Machado Ferreira, Roberta; Molina de Almeida Teixeira, Izabelle Auxiliadora
Biometric measures of young male and female goats were used to establish growth curves. Fourty-nine females (24 Saanen and 25 of ⅞ Boer breeding), and 29 males (14 and 15, respectively), were evaluated from birth to weaning. They received colostrum the first two day of life, 1.5 L of milk twice daily from 3 to 45 d and 1.5 L once daily from 46 to 60 d; and starting at 5 d, Tífton grass hay ad libitum and 100 g daily of concentrates. The kids were weighed weekly and measured for body dimensions biweekly. Age was related to body weight...
Genotype and environment interaction in Colombian Holstein cattle
- Cerón Muñoz, Mario Fernando; Tonhati, H.; Costa, C.; Benavides, F.
The existence of Genotype-Environment Interactions among four regions of Colombia was investigated. The information was obtained from records of Holstein cattle in Cundinamarca (C), Valle del Cauca(V), Antioquia (A) and Nariño (N). A mixed models multivariate analysis methodology, applied to an animal model for repeated measures was used. Variance components were estimated by Derivative Free Restricted Maximum Likelihood algorithm (DFREML). Contemporary group (Herd-year) and genetic group of the sires (origin-year of birth) were fixed effects, and the genetic additive, permanent environment and temporary environment were included as random effects. Production records (n = 69464) of 25 608 daughters of 594...
Reproductive efficiency related traits evaluation in beef genotypes under humid tropical conditions
- Casas, Eduardo; Tewolde, Assefaw
The objective of the study was to quantify genetic and nongenetic effects, and to estimate genetic variance, on reproductive efficiency traits in a herd with Romosinuano inheritance managed under tropical conditions. Records collected from 1959 to 1989 at the Tropical Agronomic Center for Research and Education, Costa Rica (CATIE), were used to calculate age at first calving (AFC; days) and calving interval (CI; days). Animals with 50% or less Romosinuano inheritance (BG1; n= 496) and with more than 50% Romosinuano inheritance (BG2; n= 1045) were classified as different breed
groups. Age of dam influenced AFC and CI (P
Reproductive efficiency related traits evaluation in dairy genotypes under humid tropical conditions
- Casas, Eduardo; Tewolde, Assefaw
The objective of this study was to establish factors affecting reproductive efficiency traits in a dairy herd and estimate relationships between these traits with milk yield. Records from 1951 to 1989 from the Tropical Agronomic Center for Research and Education, Costa Rica, were used. Breed groups studied were Central-American Milking Criollo (C), Jersey (J), C x J, J x C, 3/4C x 1/4J, 3/4J x 1/4C, C x other, and J x other. Records calculated were 1288 for age at first calving (AFC; days), 3406 for calving interval (CI; days), and 4455 for number of services per conception (NUMSER).
Characterization of genetic-biochemical polymorphism of enzymes in brazilian Mangalarga mares
- de Lima e Silva, R.; Bortolozzi, Jehud; Ramos, P. R. R.; Dierckx, Silvia
In this tudy the polymorphism of transferrins was determined using polyacrylamide gel electrophoresis, in a group of Brazilian Mangalarga mares. Blood plasma samples of 45 mares in reproductive age were used. The existence of patterns of 2, 3 and 4 bands with different mobilities, and of nine transferrin genotypes was demonstrated. Genotypes DD (22.2%) and DF (26.6%) were the most frequent, which is compatible with the situaiton found in the breeds of origin (Adalusian, Thoroughbred and Arabian) of the Mangalarga horse. The allele FfD was the most frequent, and could represent a possible environmental adaptation or a characteristic of sadle...
Genetic-biochemical polymorphism of enzymes in Brazilian Mangalarga mares
- de Lima e Silva, R.; Bortolozzi, Jehud; Ramos, P. R. R.; Dierckx, Silvia
A study was conducted with a group of mares of the Mangalarga breed in Brazil, with the aim of determining the electrophoretic pattern, in polyacrylmide gel, of the enzymes Acid Phosphatase, Alkaline Phosphatase and Peroxidase. Blood plasma samples of 45 mares in reproductive age were used. For Acid Phosphatase, we observed the existence of two alleles, A and B, with allelic frequencies of 0.28 and 0.72, respectively: corresponding to three genotypes AA, AB and BB. Allelic frequency demonstrated that the group was in Hardy-Weinberg-Castle balance. For Alkaline Phosphatase, three genotypes were verified: Type I (HA1), presenting only one band of...
Population structure of the registered Indubrasil cattle in Brazil
- Vercesi Filho, A. E.; Carvalho Faria, F.; Madalena, Fernando E.; Josahkian, L. A.
The aim of this study was to describe the population structure of the registered Indubrasil cattle in Brazil. Descriptive statistics of the distribution of the number of progeny, the generation interval, F-statistics, effective number of founders, ancestors, reminiscent genomes and effective population size were estimated using pedigree records from animals registered between 1938-1998. In the last period studied (1994-1998) 3.673 animals, 1.753 males and 1.920 females belonging to 84 breeders were registered. The generations intervals calculated in each of the four periods 1979-1983, 1984-1988, 1989-1993 and 1994-1998 were, respectively, 7,27; 7,57; 7,83 and 7,45 yr. The effective size of the...
Genetic divergence study among Duroc, Landrace and Large White swine breeds using techniques of multivariate analysis
- Vieira Pires, A.; da Fonseca, R.; Araujo Cobuci, J.; Vieira Araujo, C.; Correa da Costa, A.; Savio Lopes, P.; de Almeida Torres, Robledo; Euclydes, Ricardo Frederico
Multivariate techniques were used to evaluate the genetic divergence among three swine breeds. Six performance traits were evaluated: piglet weight at birth (PON), at 21 days (P21), at 70 days (P70), average daily weight gain (GDP), age to obtain 100 kg (ID100) and backfat thickness (ETO). Breed performance was evaluated by multivariate analysis of variance and Fisher’s linear discriminant function, using tests of Roy’s greatest root and Roy’s union-intersection to multiple comparison. The study of genetic divergence was made by canonical variables analysis. The Large White breed was somewhat superior in relation to Landrace, and both were better than Duroc....