Phylogeography and non-invasive landscape genetics of the European pine marten ("martes martes" L. 1758) : insights into ancient and contemporary processes shaping genetic variation

283 p. : graf., map.

New genetic markers for treatment personalization in pediatric acute lymphoblastic leukemia

La Leucemia Linfoblástica Aguda (LLA) es el cáncer pediátrico más común. Es un desorden de las células linfoblásticas, que son las precursoras de las células linfáticas, y se caracteriza por la acumulación en médula ósea y sangre de pequeñas células blásticas con poco citoplasma y cromatina dispersa. En las últimas décadas, se ha conseguido aumentar la supervivencia del 10% al 80% pero todavía hay un 20% de pacientes que no responden al tratamiento. Esta mejoría se ha conseguido mediante la implantación de terapias combinadas y la adecuación de la terapia a grupos de riesgo. Los pacientes se separan en tres grupos de riesgo, Riesgo Estándar (RE), Alto Riesgo (AR) y Muy Alto Riesgo (MAR), en base a marcadores pronósticos, entre los que se incluyen alteraciones citogenéticas. Sin embargo, a lo largo del tratamiento, nos encontramos con dos problemas:1) Por un lado, algunos de los pacientes incluidos en el grupo de RE y AR no responden bien al tratamiento y pasan AR y MAR respectivamente. Esto quiere decir que los grupos de riesgo no están bien definidos. Por lo tanto, sería de interés poder caracterizar los pacientes que realmente son RE y AR y aquéllos que desde un principio deberían haber sido considerados como de mayor riesgo.2) Por otro lado, un alto porcentaje de pacientes experimenta toxicidad, que puede llegar a ser muy grave en algunos casos, siendo necesario parar el tratamiento. Por este motivo, sería altamente beneficioso poder reconocer a los pacientes que van a ser más sensibles al tratamiento para, de ese modo, poder ajustar la dosis.Por todo esto, creemos que una mejor asignación de los pacientes de LLA a grupos de riesgo y la personalización de la dosis, mediante nuevos marcadores genéticos, permitiría mejorar la respuesta al tratamiento.En este estudio nos planteamos, por lo tanto, dos objetivos: 1) Llevar a cabo la identificación de nuevas alteraciones genéticas presentes en el tumor para una mejor caracterización del riesgo y 2) Realizar una caracterización genética del individuo que permita predecir la respuesta al tratamiento.

Genetic and morphological identification of pelagic juvenile rockfish collected from the Gulf of Alaska

Pelagic juvenile rockfish (Sebastes spp.) collected in surveys designed to assess juvenile salmonids and other species in the Gulf of Alaska in 1998 and 2000–2003 provide an opportunity to document the occurrence of the pelagic juveniles of several species of rockfish. Often, species identification of rockfish is difficult or impossible at this stage of development (~20 to 60 mm), and few species indigenous to Alaska waters have been described. Use of mitochondrial DNA markers for rockfish species allowed unequivocal identification of ten species (S. aleutianus, S. alutus, S. borealis, S. entomelas, S. flavidus, S. melanops, S. pinniger, S. proriger, S. reedi, and S. ruberrimus) in subsamples from the collections. Other specimens were genetically assignable to groups of two or three species. Sebastes borealis, S. crameri, and S. reedi were identified using morphological data. Combining genetic and morphological data allowed successful resolution of the other species as S. emphaeus, probably S. ciliatus (although S. polyspinis cannot be totally ruled out), and S. polyspinis. Many specimens were initially morphologically indistinguishable from S. alutus, and several morphological groups included fish genetically identified as S. alutus. This paper details the characteristics of these pelagic juveniles to facilitate morphological identification of these species in future collections. (PDF file contains 32 pages.)

Genetic improvement and effective dissemination: keys to prosperous and sustainable aquaculture industries

There is an increasing demand for fish in the world due to a growing population, better economic situation in some sectors, and greater awareness of health issues in relation to food. Since capture fisheries have stagnated, fish farming has become a very fast growing food production system. In this presentation, the author gives an overview of the technologies that are available for genetic improvement of fish, and briefly discuss their merit in the context of a sustainable development. He also discusses the essential prerequisites for effective dissemination of improved stock to farmers. It is concluded that genetic improvement programs based on selective breeding can substantially contribute to sustainable fish production systems. Furthermore, if such genetic improvement programs are followed up with effective dissemination strategies, they can result in a positive impact on farmers' incomes.

Potential applications of reproductive and molecular genetic technologies in the selective breeding of aquaculture species

The use of reproductive and genetic technologies can increase the efficiency of selective breeding programs for aquaculture species. Four technologies are considered, namely: marker-assisted selection, DNA fingerprinting, in-vitro fertilization, and cryopreservation. Marker-assisted selection can result in greater genetic gain, particularly for traits difficult or expensive to measure, than conventional selection methods, but its application is currently limited by lack of high density linkage maps and by the high cost of genotyping. DNA fingerprinting is most useful for genetic tagging and parentage verification. Both in-vitro fertilization and cryopreservation techniques can increase the accuracy of selection while controlling accumulation of inbreeding in long-term selection programs. Currently, the cost associated with the utilization of reproductive and genetic techniques is possibly the most important factor limiting their use in genetic improvement programs for aquatic species.

Manual for starch gel electrophoresis: A method for the detection of genetic variation

The procedure to conduct horizontal starch gel electrophoresis on enzymes is described in detail. Areas covered are (I) collection and storage of specimens, (2) preparation of tissues, (3) preparation of a starch gel, (4) application of enzyme extracts to a gel, (5) setting up a gel for electrophoresis, (6) slicing a gel, and (7) staining a gel. Recipes are also included for 47 enzyme stains and 3 selected gel buffers. (PDF file contains 26 pages.)

Genetic improvement and utilisation of indigenous tilapia in southern Africa: final technical report, December 1st 1998 to June 31st, 2002

Mozambique tilapia (Oreochromis mossambicus) is an indigenous tilapia species in southern Africa, until now the majority of genetic research has been carried out on Asian species of tilapia but this project aims to look at this African species. Those most suited to further development in aquaculture in southern Africa have now been identified. The genetic characterisation of strains has been completed. This information has aided the choice of strains for use in small scale aquaculture and for genetically male tilapia (GMT) production. They will form the basis of future strategies for further genetic improvement, and management of genetic diversity of Mozambique tilapia. The information will also contribute towards responsible management and development of genetic resources, particularly with regard to indigenous species of tilapia. Good progress has been made with the adaptation and implementation of producing the supermale fish required to produce all male offspring, resulting in faster growing populations of tilapia. The presence of the project and its associated activity has been a catalyst for a surge in interest in tilapia culture throughout southern Africa. [PDF contains 183 pages]

Multi-drug resistance profiles and the genetic features of Acinetobacter baumannii isolates from Bolivia

Introduction: Acinetobacter baumannii is opportunistic in debilitated hospitalised patients. Because information from some South American countries was previously lacking, this study examined the emergence of multi-resistant A. baumannii in three hospitals in Cochabamba, Bolivia, from 2008 to 2009. Methodology: Multiplex PCR was used to identify the main resistance genes in 15 multi-resistant A. baumannii isolates. RT-PCR was used to measure gene expression. The genetic environment of these genes was also analysed by PCR amplification and sequencing. Minimum inhibitory concentrations were determined for key antibiotics and some were determined in the presence of an efflux pump inhibitor, 1-(1-napthylmethyl) piperazine. Results: Fourteen strains were found to be multi-resistant. Each strain was found to have the bla(OXA-58) gene with the ISAba3-like element upstream, responsible for over-expression of the latter and subsequent carbapenem resistance. Similarly, ISAba1, upstream of the bla(ADC) gene caused over-expression of the latter and cephalosporin resistance; mutations in the gyrA(Ser83 to Leu) and parC (Ser-80 to Phe) genes were commensurate with fluoroquinolone resistance. In addition, the adeA, adeB efflux genes were over-expressed. All 15 isolates were positive for at least two aminoglycoside resistance genes. Conclusion: This is one of the first reports analyzing the multi-drug resistance profile of A. baumannii strains isolated in Bolivia and shows that the over-expression of thebla(OXA-58), bla(ADC) and efflux genes together with aminoglycoside modifying enzymes and mutations in DNA topoisomerases are responsible for the multi-resistance of the bacteria and the subsequent difficulty in treating infections caused by them.

Framework for the Shape Optimization of Aerodynamic Profiles Using Genetic Algorithms

This study developed a framework for the shape optimization of aerodynamics profiles using computational fluid dynamics (CFD) and genetic algorithms. Agenetic algorithm code and a commercial CFD code were integrated to develop a CFD shape optimization tool. The results obtained demonstrated the effectiveness of the developed tool. The shape optimization of airfoils was studied using different strategies to demonstrate the capacity of this tool with different GA parameter combinations.

The Expanded mtDNA Phylogeny of the Franco-Cantabrian Region Upholds the Pre-Neolithic Genetic Substrate of Basques

9 p.

Neural routing circuits for forming invariant representations of visual objects

This thesis presents a biologically plausible model of an attentional mechanism for forming position- and scale-invariant representations of objects in the visual world. The model relies on a set of control neurons to dynamically modify the synaptic strengths of intra-cortical connections so that information from a windowed region of primary visual cortex (Vl) is selectively routed to higher cortical areas. Local spatial relationships (i.e., topography) within the attentional window are preserved as information is routed through the cortex, thus enabling attended objects to be represented in higher cortical areas within an object-centered reference frame that is position and scale invariant. The representation in V1 is modeled as a multiscale stack of sample nodes with progressively lower resolution at higher eccentricities. Large changes in the size of the attentional window are accomplished by switching between different levels of the multiscale stack, while positional shifts and small changes in scale are accomplished by translating and rescaling the window within a single level of the stack. The control signals for setting the position and size of the attentional window are hypothesized to originate from neurons in the pulvinar and in the deep layers of visual cortex. The dynamics of these control neurons are governed by simple differential equations that can be realized by neurobiologically plausible circuits. In pre-attentive mode, the control neurons receive their input from a low-level "saliency map" representing potentially interesting regions of a scene. During the pattern recognition phase, control neurons are driven by the interaction between top-down (memory) and bottom-up (retinal input) sources. The model respects key neurophysiological, neuroanatomical, and psychophysical data relating to attention, and it makes a variety of experimentally testable predictions.