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On Parkinson's disease and schizophrenia : case control studies, cellular localization and modelling of candidate genes /Carmine, Andrea, January 2003 (has links)
Diss. (sammanfattning) Stockholm : Karol. inst., 2003. / Härtill 11 uppsatser.
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Mapeamento de QTLs para resistência a grãos ardidos causados por diplodia (Stenocarpella Sp.) em milho (Zea Mays L.)Gutiérrez, Humberto Ignácio 28 February 2008 (has links)
Diplodia ear rot caused by the fungus Stenocarpella maydis (Berkeley) and Stenocarpella
macrospora (Earle) have become one of the most important limiting factors for the production
of Corn (Zea mays L.) in Brazil. The fungus can attack the stalks, leaves and the grain
causing significant reductions on yield and the overall quality of the grain, since it can produce
micotoxinas that are dangerous to livestock. Resistance to ear rot by Stenocarpella sp in corn
is quantitative and highly influenced by the environment and even that artificial inoculation
techniques are available to screen for the disease the overall cost is very expensive. The
objective of this study was the identification of quantitative trait loci (QTL s) associated with
ear rot resistance by Stenocarpella sp in one breeding population composed of 141 doublehaploid
progenies resulted from the cross among the resistant inbred MONDR1 and the
susceptible inbred MONDS1 in testcrosses with the susceptible tester MONDS5. Testcrosses
were evaluated at harvest time after artificial inoculation for ear rot at three different locations
in the central region of Brazil during the 2005/06 summer season. Thru Composite interval
mapping (CIM), a total of three QTL s (LOD>2.5) for ear rot resistance were identified at
chromosomes 2, 3 and 5, all together accounting for up 26% of total phenotypic variation for
this character. The identification of two QTL s for ear rot resistance coming from the
susceptible parent MONDS1 appear to indicate the presence of the phenomena of
transgressive segregation. Additionally we were able to identify six double-haploid progenies
with high level of resistance to ear rot by Stenocarpella (MDH15, MDH443, MDH95, MDH2,
MDH120 e MDH81), being those recommended for their incorporation into the breeding
program as new breeding sources for the Central Brazil regions. / Grãos ardidos causados pelos fungos Stenocarpella maydis (Berkeley) e Stenocarpella
macrospora (Earle) tem se constituído num dos maiores fatores limitantes para a produção de
milho (Zea mays L.) no Brasil. Estes fungos podem causar infecções no colmo, folhas e grãos,
podendo ocasionar reduções significativas na produtividade e na qualidade do grão, pela
produção de micotoxinas daninhas para aves e bovinos. A resistência para podridão de grão
por Stenocarpella sp apresenta herança quantitativa e pode ser altamente influenciada pelo
meio ambiente, e embora existam técnicas de inoculação que facilitam a discriminação de
materiais suscetíveis, isto requer de grande quantidade de recursos. O objetivo do presente
trabalho foi à identificação de locos de caracteres quantitativos (QTL) associados à resistência
para podridão de grãos ( grãos ardidos ) ocasionados por Stenocarpella sp numa população de
141 progênies duplo-haplóides derivadas do cruzamento entre a linhagem resistente MONDR1
e a linhagem susceptível MONDS1 em testcross com o testador susceptível MONDS5. A
porcentagem de espigas infectadas por Stenocarpella sp foi registrada para cada uma das
testcrosses apos da inoculação artificial em três localidades na região Central de Brasil
durante a Safra agrícola 2005/06. Mediante a análise de mapeamento por intervalo composto
foram identificados três QTL s com LOD>2.5 para resistência à grãos ardidos nos
cromossomos 2, 3 e 5, sendo estes em conjunto, responsáveis por ate 26% de variação
fenotípica para este caráter. A identificação de dois QTL s para resistência a grãos ardidos por
Stenocarpella sp com origem no progenitor susceptível parece indicar a presença do fenômeno
de segregação transgressiva. Adicionalmente foram identificadas seis progênies duplohaplóides
com alto nível de resistência a grãos ardidos (MDH15, MDH443, MDH95, MDH2,
MDH120 e MDH81), sendo estas recomendadas para sua incorporação no programa de
melhoramento para a região central do Brasil. / Mestre em Genética e Bioquímica
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Genový polymorfismus Th1/Th2 cytokinů u pacientek s děložní myomatózou / Th1/Th2 cytokine gene polymorphisms in patients with urine fibroidSosna, Ondřej January 2011 (has links)
Background: Uterine fibriod (UF) or leiomyoma is the most frequent benign tumour upon lower genital tract and represents the most frequent indication for hysterectomy. The aetiology remains still unknown. The genetic factors contributing for the development of UF are being intensively investigated. The aim of our study was to look for possible genetic markers which could be used as prognostic tools for evaluation of an increased risk for development of UF. Methods: The study group enrolled 102 patients diagnosed with UF and 145 healthy controls. Ultrasonographic examination of the pelvis was performed and a single blood sample was taken in all women. Histological verification followed the surgery in the patient group. The principal of the cytokine gene polymorphisms detection is based on PCR reaction with sequence-specific primers. Results: A large spectrum of Th1/Th2 cytokine gene polymorphisms in patients with uterine fibroid was compared with control group. The frequencies of the majority of tested cytokine gene SNP in the patient cohort were not statistically different from the cytokine SNP in the control group. However, an intriguing association between polymorphisms of the IL-4 gene promotor at positions -590 C/T and -33 C/T, and the risk of leiomyoma was observed. The CC genotype of IL-4 at position...
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Genový polymorfismus Th1/Th2 cytokinů u pacientek s děložní myomatózou / Th1/Th2 cytokine gene polymorphisms in patients with urine fibroidSosna, Ondřej January 2011 (has links)
Background: Uterine fibriod (UF) or leiomyoma is the most frequent benign tumour upon lower genital tract and represents the most frequent indication for hysterectomy. The aetiology remains still unknown. The genetic factors contributing for the development of UF are being intensively investigated. The aim of our study was to look for possible genetic markers which could be used as prognostic tools for evaluation of an increased risk for development of UF. Methods: The study group enrolled 102 patients diagnosed with UF and 145 healthy controls. Ultrasonographic examination of the pelvis was performed and a single blood sample was taken in all women. Histological verification followed the surgery in the patient group. The principal of the cytokine gene polymorphisms detection is based on PCR reaction with sequence-specific primers. Results: A large spectrum of Th1/Th2 cytokine gene polymorphisms in patients with uterine fibroid was compared with control group. The frequencies of the majority of tested cytokine gene SNP in the patient cohort were not statistically different from the cytokine SNP in the control group. However, an intriguing association between polymorphisms of the IL-4 gene promotor at positions -590 C/T and -33 C/T, and the risk of leiomyoma was observed. The CC genotype of IL-4 at position...
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Performance-Aware Code Size Optimization of Generic Functions through Automatic Implementation of Dynamic Dispatch / Prestandamedveten kodstorleksoptimering av generiska funktioner genom automatisk tillämpning av dynamic dispatchHärnqvist, Ivar January 2022 (has links)
Monomorphization and dynamic dispatch are two common techniques for implementing polymorphism in statically typed programming languages. Function templates in C++ use the former technique to enable algorithms written as generic functions to be efficiently reused with multiple different data types by producing a separate function instantiation for each invocation that uses a unique permutation of argument types. This avoids the overhead of indirection associated with dynamic dispatch and allows the generated code of each instantiation to be optimized by the compiler for its specific concrete types, which typically yields great improvements in runtime performance over any dynamic approach. The disadvantage of this implementation, compared to the type-erased generics found in many other programming languages, is that careless over-use of templates with many different argument types can lead to an excessive amount of redundant code being generated for the same function. This increase in code size may increase the binary size of the final program and reduce the amount of useful code that can fit into the processor's instruction cache during execution, reducing code locality and thereby potentially reducing performance. Monomorphization can also increase compilation time due to the increase in generated code that needs to be compiled and optimized. This thesis presents a heuristic-based approach to generic programming that allows function templates to be automatically converted to use dynamic dispatch in scenarios where the resulting negative impact on runtime performance is predicted to be low. The thesis project includes the development of a proof of concept plugin for the Clang compiler frontend that can be used to compile existing C++ projects with the conversions applied. The design of a heuristic function for determining whether a given function template should use monomorphization or dynamic dispatch based on statically known metrics is proposed based on the results of an experiment. This heuristic is shown to achieve a small general improvement in program size across a set of open-source C++ projects when they are compiled using the plugin. The key findings from the experiment and from the development of the plugin are summarized with a general strategy for how the approach can be integrated into the design of future programming languages to promote more extensive use of generic programming in performance-sensitive code while avoiding regressions in program size and compilation time.
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