Clasificación de la epilepsia

Clasificación de la epilepsia. Basada en la ILAE, descripción semiologica y hallazgos electroencefalograficos.

¿De la mezcla de grupos socioeconómicos a la integración social?, perspectivas desde el uso del espacio público, estudio de caso parque Sauzalito, Bogotá

El interés de este estudio de caso, es el de analizar las diferentes dinámicas de uso del espacio público, que se dan a la luz de la integración social. Durante la elaboración del trabajo será analizado el fenómeno de la segregación, que es típico dentro de la estructura urbana. El anterior será visto desde el espacio público, entendido como elemento fundamental para que los ciudadanos se recreen, se apropien e interactúen con otros ciudadanos. Asimismo, el trabajo se realiza con el fin de observar la pertinencia o no de unir diferentes estratos socioeconómicos en un mismo territorio, propuesta que hace la administración actual de la ciudad de Bogotá.

A genetic linkage map of microsatellite, gene-specific and morphological markers in diploid Fragaria

Diploid Fragaria provide a potential model for genomic studies in the Rosaceae. To develop a genetic linkage map of diploid Fragaria, we scored 78 markers (68 microsatellites, one sequence-characterised amplified region, six gene-specific markers and three morphological traits) in an interspecific F2 population of 94 plants generated from a cross of F.vesca f. semperflorens × F. nubicola. Co-segregation analysis arranged 76 markers into seven discrete linkage groups covering 448 cM, with linkage group sizes ranging from 100.3 cM to 22.9 cM. Marker coverage was generally good; however some clustering of markers was observed on six of the seven linkage groups. Segregation distortion was observed at a high proportion of loci (54%), which could reflect the interspecific nature of the progeny and, in some cases, the self-incompatibility of F. nubicola. Such distortion may also account for some of the marker clustering observed in the map. One of the morphological markers, pale-green leaf (pg) has not previously been mapped in Fragaria and was located to the mid-point of linkage group VI. The transferable nature of the markers used in this study means that the map will be ideal for use as a framework for additional marker incorporation aimed at enhancing and resolving map coverage of the diploid Fragaria genome. The map also provides a sound basis for linkage map transfer to the cultivated octoploid strawberry.

Rare variants in LRRK1 and Parkinson's disease

Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the coding regions of these genes in 862 cases and 1,014 controls revealed several novel non-synonymous variants in both genes in cases and controls. An in silico multi-model bioinformatics analysis was used to prioritize identified variants in LRRK1 for functional follow- up. However, protein expression, subcellular localization, and cell viability were not affected by the identified variants. Although it has yet to be proven conclusively that variants in LRRK1 are indeed causative of PD, our data strengthen a possible role for LRRK1 in addition to LRRK2 in the genetic underpinnings of PD but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance.

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (`question mark ears`), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter-and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11 affected individuals (F1), in whom we confirm intra-familial clinical variability. Facial asymmetry, a clinical feature not highlighted in other ACS reports, was highly prevalent among the patients reported here. The gene responsible for ACS is still unknown and its identification will certainly contribute to the understanding of human craniofacial development. No chromosomal rearrangements have been associated with ACS, thus mapping and positional cloning is the best approach to identify this disease gene. To map the ACS gene, we conducted linkage analysis in two large ACS families, F1 and F2 (F2; reported elsewhere). Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome). Next, we performed a wide genome search and we observed evidence of linkage to 1p21.1-q23.3 in F2 (LOD max 3.01 at theta = 0). Interestingly, this locus was not linked to the phenotype segregating in F1. Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype.

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3

Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

Major gene and multifactorial inheritance of mandibular prognathism

Mandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study sample comprised of 2,562 individuals from 55 families. Complete family histories for each proband were ascertained and the affection status of relatives were confirmed by lateral cephalograms, photographs, and dental models. Pedigrees were drawn using PELICAN and complex segregation analysis was performed using POINTER. Parts of some pedigrees were excluded to create one founder pedigrees, so the total N was 2,050. Analysis showed more affected females than males (P = 0.030). The majority of the pedigrees suggest autosomal dominant inheritance. Incomplete penetrance was demonstrated by the ratio of affected/unaffected parents and siblings. The heritability of mandibular prognathism was estimated to be 0.316. We conclude that there is a major gene that influences the expression of mandibular prognathism with clear signs of Mendelian inheritance and a multifactorial component. (C) 2007 Wiley-Liss, Inc.

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.Conclusion: This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.

Comparação de diferentes estratégias para a análise de características de crescimento e de carcaça de suínos cruzados: modelos finito e infinitesimal poligênico

Foi utilizada uma análise de segregação com o uso da inferência Bayesiana para estimar componentes de variância e verificar a presença de genes de efeito principal (GEP) influenciando duas características de carcaça: gordura intramuscular (GIM), em %, e espessura de toucinho (ET), em mm; e uma de crescimento, ganho de peso (g/dia) dos 25 aos 90 kg de peso vivo (GP). Para este estudo, foram utilizadas informações de 1.257 animais provenientes de um delineamento de F2, obtidos do cruzamento de suínos machos Meishan e fêmeas Large White e Landrace. No melhoramento genético animal, os modelos poligênicos finitos (MPF) podem ser uma alternativa aos modelos poligênicos infinitesimais (MPI) para avaliação genética de características quantitativas usando pedigrees complexos. MPI, MPF e MPI combinado com MPF foram empiricamente testados para se estimar componentes de variâncias e número de genes no MPF. Para a estimação de médias marginais a posteriori de componentes de variância e de parâmetros, foi utilizada uma metodologia Bayesiana, por meio do uso da Cadeia de Markov, algoritmos de Monte Carlo (MCMC), via Amostrador de Gibbs e Reversible Jump Sampler (Metropolis-Hastings). em função dos resultados obtidos, pode-se evidenciar quatro GEP, sendo dois para GIM e dois para ET. Para ET, o GEP explicou a maior parte da variação genética, enquanto, para GIM, o GEP reduziu significativamente a variação poligênica. Para a variação do GP, não foi possível determinar a influência do GEP. As herdabilidades estimadas ajustando-se MPI para GIM, ET e GP foram de 0,37; 0,24 e 0,37, respectivamente. Estudos futuros com base neste experimento que usem marcadores moleculares para mapear os genes de efeito principal que afetem, principalmente GIM e ET, poderão lograr êxito.

Epidemiology and genetics of endemic goiter. II. Genetic aspects

Complex genetic models and segregation analysis were applied to family data obtained in a hyperendemic goiter area in Brazil. The single locus and Falconer's models did not fit the data. Edward's model showed convergency, but statistical concordance has not been obtained. Although the genetic load model explains statistically the family data, it would be hard to imagine that endemic goiter could be explained by a model where synergism among genetic and environmental factors is not assumed.

Characterization of the Genetic Variability of a Sugarcane Commercial Cross Through Yield Components and Quality Parameters

The phenotypic characterization as well as the knowledge of the correlation among traits, is the first step to quantify the potential of a cross for further QTL (quantitative trait loci) detection. The present work aimed to evaluate the yield components and quality parameters variability of a mapping population derived from a bi-parental cross between IACSP95-3018 and IACSP93-3046 at plant cane and ratoon cane as well as to estimate the heritabilities and pair-wise correlation among the traits evaluated. The progeny clones differed significantly for the traits measures indicating the existence of significant amount of variability among them as also as the presence of transgressive clones. Broad-sense heritabilities values were generally high for stalk diameter, stalk weight, stalk height, Brix and Pol%Cane in plant cane and ratoon cane. Tones of sugarcane per hectare (TCH) were significantly correlated with stalk weight and stalk number in both years. Regarding to all the yield components, stalk number together with stalk weight were the most important components in the determination of TCH. While fiber and Pol%Cane were negative correlated showing that they are inversely correlated traits. © 2012 Society for Sugar Research & Promotion.

Obtenção de plantas transgênicas de soja com a forma constitutiva do fator de transcrição AREB1

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Mapeamento genético e identificação de marcadores aflp, microssatélites genômicos e funcionais associados a parâmetros agroindustriais em cana-de-açúcar

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Genes de efeito principal e locos de características quantitativas (QTL) em suínos

Pós-graduação em Zootecnia - FMVZ

Evidence for biological inheritance of the eosinophil response to internal parasites in southeastern Brazil

Uma amostra de 177 indivíduos pertencentes a 120 famílias nucleares, completas ou incompletas, de Bambui, Estado de Minas Gerais, sudeste do Brasil, foi estudada com o objetivo de apurar algumas das causas da variabilidade da taxa de eosinófilos em pessoas parasitadas por vermes intestinais com ciclo de vida extra-digestivo. A análise de segregação, aplicada aos dados sem correção para a assimetria, mostrou que a hipótese de um gene principal aditivo é consistente com os dados, enquanto que as hipóteses que supõem a ação de um gene dominante, de um gene recessivo ou ainda herança multifatorial não explicam, adequadamente, a significante agregação familial observada. A correção mais parcimoniosa para assimetria mostrou resultados semelhantes, mas não permitiu a distinção entre os modelos dominante e recessivo, embora permitisse a rejeição do modelo codominante. Considerando que esse modelo supõe ser a assimetria devida ao entrelaçamento de duas distribuições, esses resultados parecem concordar com aqueles obtidos quando os dados não foram corrigidos. Pode-se sugerir que o papel desempenhado por vários fatores genéticos independentes na resistência/suscetibilidade à infestação por helmintos seja determinado, principalmente, por suas capacidades de agir no estabelecimento de uma resposta eosinofílica.