In this thesis, the morphology, crystallization and melting behavior of polypropylene copolymers (propylene/ethylene, propylene/1-butene, propylene/1-hexene and propylene/1-octene) has been examined. The multiple melting behavior has been correlated with the presence of alpha and gamma phases and with the occurrence of cross-hatching morphology. The Crystallization and melting behavior of propylene/ethylene and propylne/1-butene are qualitatively similar and compatible with the expectations that the ethylene and butene comonomers are partly included in the propylene lattice. Propylene/1-hexene and propylene/1-octene copolymers exhibit remarkably similar behavior and morphologies consistent with the expectations that the hexene and the octene comonomers are rigorously excluded from the crystal lattice. The origin and the crystallization time dependence of the multiple melting behavior is very different for these two pairs of copolymers. For PE and PB it is consistent with the melting of parent a-phase lamellae and alpha or gamma-phase daughter lamellae. For PH and PO copolymers it is very similar to that observed for ethylene-octene(EO) and ethylene-styrene(ES) copolymers and compatible with the melting of primary lamellae and secondary mosaic or fringed micellar structures. / Master of Science

The planar entry flow behavior of polystyrene, LDPE, and HDPE has been observed experimentally. The purpose of the work was to determine the cause of vortex growth and explain why this phenomenon occurs in some polymers but not in others. To accomplish this a die was constructed in which nearly any flow geometry could be formed by means of inserts. Flow visualization and flow birefringence experiments were performed using this die with 4:1 and 8:1 abrupt planar contraction geometries for τ_12w up to 7x10⁴ Pa and γ from 1 to 80 sec⁻¹. From these experiments it was determined that vortex growth in a polymer is caused by the resistance to flow under the influence of extensional strain. Although extensional viscosity measurements give an indication of whether or not vortices will form, the flow behavior is best correlated by the ratio of the centerline extensional stress to the downstream wall shear stress, τ₁₁ - τ₂₂ / τ_12w, measured in the entry region. The magnitude of this ratio was approximately 2 for LDPE, which exhibited vortex growth, but was approximately 1 for polystyrene, which did not exhibit vortex growth. Based on the experimental results, the numerical work was directed towards the use of a constitutive equation which could predict the extensional properties of the polymers being modelled. The Phan-Thien Tanner model was found to give adequate rheological property predictions and was used with the penalty finite element method to simulate the entry flow behavior of LDPE and polystyrene. Both qualitative (streamline patterns) and quantitative (extensional stress ratio) agreement was found between the experimental and numerical results. Vortex growth was predicted for LDPE, but incorporation of a zero relaxation time at the corner elements was necessary to increase the limit of convergence to the point where vortex growth was predicted. Support for the relation between vortex growth and extensional properties was given by the numerical results. lt was found that, holding all other rheological properties the same, an increase in the predicted extensional viscosity of a fluid results in the prediction of larger vortices. / Ph. D.

The melting of planetesimals was a widespread geologic phenomenon taking place in the early inner solar system. Petrologic and geochemical evidence shows that this melting frequently resulted in full differentiation of planetary bodies into a core, mantle, and crust. The extent of this early planetary melting is evidenced in the breadth of achondrite meteorites. In the achondrite meteorite group, there exist meteorites that experienced low degrees of melting, such that the parent body underwent partial melting and did not fully differentiate. These meteorites, called the primitive achondrites, are a window to the first stage of melting in the early solar system. The primitive achondrites with FeO-poor silicate compositions have been well-studied, but little is known about the formation conditions and history of the FeO-rich primitive achondrites, which includes the brachinites and several ungrouped meteorites.The brachinites are olivine-dominated meteorites with a recrystallized texture that show evidence of partial melting and melt removal on their parent body. The ungrouped primitive achondrites are also olivine-dominated meteorites with a recrystallized texture, but they exhibit a larger range in mineralogy with most being essentially chondritic and containing relict chondrules. In this dissertation, I present a study of the petrology, geochemistry and formation conditions of the FeO-rich primitive achondrites. I analyze the petrology and bulk composition of the meteorites, and I conduct thermodynamic modelling of the mineral assemblages to determine oxidation conditions during their formation. Finally, I attempt to simulate the formation of the brachinite meteorites through 1-atmosphere, gas-mixing partial melting experiments of an FeO-rich chondritic meteorite.These meteorites represent a continuum of partial melting, akin to that seen in the acapulcoite-lodranite clan of primitive achondrites. Mineral compositions and oxygen fugacity formation conditions indicate that the brachinites could have formed from a parent body much like the R chondrites. Gas-mixing, partial melting experiments of a R4 chondrite LaPaz Ice Field 03639 at 1250 °C and an oxygen fugacity of IW-1 create the mineralogy and mineral compositions of the brachinites. The experiments also confirm that the brachinites formed by the partial melting of an FeO-rich chondritic source and not as igneous cumulates.

Les technologies de fabrication additive(FA) basées sur la technique de fusion laser sur lit de poudres, telles que les procédés de fusion sélective laser (Selective Laser Melting ‘SLM’) et de fusion par faisceau d'électrons (Electron Beam Melting ‘EBM’), ne cessent de se développer afin de produire des pièces fonctionnelles principalement dans les domaines aérospatial et médical. Le procédé de fabrication additive offre de nombreux avantages, tels que la liberté de conception, la réduction des étapes de fabrication, la réduction de la matière utilisée, et la réduction de l'empreinte carbone lors de la fabrication d'un composant. Néanmoins, les pièces obtenues nécessitent une opération d’usinage de finition afin de satisfaire les tolérances dimensionnelles et l’état de surface. / Additive Manufacturing (AM) techniques based on powder bed fusion like Selective Laser Melting(SLM) and Electron Beam Melting processes(EBM) are being developed to make fully functional parts mainly in aerospace and medical sectors. There are several advantages of using AM processes like design freedom, reduced process steps, minimal material usage and reduced carbon footprint while producing a component. Nevertheless, the parts are built with near net shape and then finish machined to meet the demands of surface quality and dimensional tolerance.

Cerca de 10% dos casos de câncer de mama e/ou ovário são caracterizados como hereditários, onde a presença de mutações germinativas no gene de suscetibilidade BRCA1 aumenta o risco de desenvolver esses cânceres durante a vida da mulher. O BRCA1 é um gene supressor tumoral envolvido na resposta de danos ao DNA, controle do ciclo celular, na remodelação da cromatina, ubiquitinação e regulação da transcrição. O presente estudo tem como objetivo central caracterizar as mutações do gene BRCA1 associadas a Síndrome Hereditária do Câncer de Mama e/ou Ovário (HBOC) em pacientes atendidos no Serviço de Aconselhamento Genético do Câncer do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP/USP). Os vinte e dois éxons codificantes do BRCA1 foram analisados utilizando o método de High Resolution Melting (HRM) para triagem de mutações pontuais, seguido pelo sequenciamento de DNA dos casos selecionados para validação. A técnica de MLPA (Multiplex Ligation-dependent Probe Amplification) também foi usada para detectar grandes deleções e duplicações. Uma vez confirmada a mutação, membros da família considerados de alto risco, serão investigados para a mutação específica, a fim de proporcionar-lhes um aconselhamento genético apropriado para a detecção precoce do câncer. No presente estudo, foram investigados 41 pacientes que preencheram os critérios para o teste genético de acordo com NCCN Clinical Practice Guidelines in Oncology v.1.2010. Um total de 21 mutações foram identificadas, duas das quais são patogênicas: a deleção dos éxons 17-18 e a deleção dos éxon 19. Ambas estão localizadas no domínio BRCT do gene BRCA1, essencial para a ligação de fosfoproteínas críticas para a ativação do complexo de reparo do DNA. Outra mutação, a S616del, foi tratada como patogênica, mas apresenta informações controversas em diferentes estudos. O trabalho também identificou uma nova mutação, Val1117Ile. Um estudo de haplótipos das mutações identificadas nos pacientes foi realizado e revelou que um dos haplótipos, denominado de 6, contendo quatro resíduos mutados (871Leu, 1038Gly, 1183Arg e 1613Gly) estava presente em 50% das pacientes. O estudo de associação com 82 indivíduos saudáveis, mostrou diferença significativa (p=0,026) nos pacientes, sugerindo assim um risco aumentado de HBOC. Adicionalmente, foi analisada a mutação germinativa R337H no gene p53 para os casos suspeitos de Síndrome de Li-Fraumeni. Em síntese, o presente estudo contribui com a identificação de uma nova mutação não-sinônina no gene BRCA1 e sugere que o haplótipo 871Leu-1038Gly-1183Arg-1613Gly possa conferir risco aumentado do câncer de mama e/ou ovário em pacientes diagnosticados com HBOC. / About 10% of cases of breast and/or ovary cancer are characterized as hereditary, where the presence of germline mutations in susceptibility BRCA1 gene increases the risk of developing these cancers during womans lifetime. BRCA1 is a tumor suppressor gene involved in DNA damage response, cell cycle control, chromatin remodeling, ubiquitination and transcriptional regulation. The present study aims to characterize BRCA1 gene mutations associated with Hereditary Breast/Ovary Cancer Syndrome (HBOC) in patients from the Cancer Genetic Counseling Service of the General Hospital of the Medical School of Ribeirão Preto, University of São Paulo (HCFMRP-USP). The twenty two coding exons of BRCA1 were analyzed using High Resolution Melting (HRM) method for the screening of point mutations, followed by DNA sequencing of the cases selected to validation. MLPA (Multiplex Ligation-dependent Probe Amplification) technique was also used to detect gross deletions and duplications. Once confirmed the mutation, family members most at risk will be analyzed for the specific mutation in order to provide them with an appropriate genetic counseling for early detection of cancer. In the present study, we investigated 41 patients that fulfilled the criteria for genetic testing according to NCCN Clinical Practice Guidelines in Oncology v.1.2010. A total of 21 mutations were identified, two of them are pathogenic: a deletion of exons 17-18 and a deletion of exon 19. Both of them are located in the BRCT domain of BRCA1 gene, impairing the binding of essential phosphoproteins critical to the activation of DNA repair complex. Another mutation, S616del, shows controversial information about its pathogenesis in different studies.The present study also describes a new mutation, Val1117Ile. A study of haplotypes of the mutations identified in patients was performed and revealed that one of the haplotypes, called 6, containing four mutated residues (871Leu, 1038Gly, and 1183Arg 1613Gly) was present in 50% of patients. The association study with 82 healthy subjects showed a significant difference (p = 0.026) in patients, thus suggesting an increased risk for HBOC. Additionally, the germline mutation R337H on p53 gene was also analyzed in the present study for suspected cases of Li-Fraumeni Syndrome. In summary, this study contributes to the identification of a new missense mutation in the BRCA1 gene and suggests that the haplotype-871Leu-1038Gly 1183Arg-1613Gly may confer increased risk of breast cancer and / or ovarian cancer in patients diagnosed with HBOC.

A fusão zonal compreende uma família de métodos para controle e distribuição de impurezas na qual uma pequena zona fundida é deslocada lentamente ao longo de um material sólido, redistribuindo o soluto. Ela é utilizada na purificação de materiais, num processo denominado refino zonal, mas também pode ser usada na distribuição homogênea ou descontínua de impurezas e no crescimento de cristais. A fusão zonal aplicada ao crescimento de grãos, visando a obtenção de materiais mono ou policristalinos com grãos grosseiros é denominada recristalização por fusão zonal (ZMR) e seu uso principal é na preparação de materiais para fabricação de dispositivos eletrônicos e fotovoltaicos, especialmente em silício. Na última década, o progresso na tecnologia ZMR foi feito principalmente em três campos: desenvolvimento de equipamento, controle de processo e modelagem numérica, mas somente algumas pesquisas abordam a fusão zonal a baixas temperaturas e restringem a aplicação do método a outros materiais semicondutores como os elementos do grupo III, IV ou V. Deste modo, o presente trabalho tem como objetivo verificar a influência da velocidade de varredura, da largura da zona fundida e do número de passadas no processo de fusão zonal de materiais de baixo ponto de fusão, em relação à obtenção de materiais policristalinos com grãos grosseiros. Para tanto, construiu-se um equipamento de fusão zonal horizontal e barras de alumínio puro (P0610) foram submetidas ao processo, variando os parâmetros acima referidos. A macroestrutura das amostras foi analisada e os resultados obtidos do número de grãos/área foram interpretados, verificando a influência dos parâmetros físicos anteriormente citados, do gradiente térmico e do super-resfriamento constitucional. Verificou-se que a redução na velocidade de varredura e na largura da zona fundida, de modo geral, mostrou-se eficiente em relação à diminuição do número de grãos por área. Os resultados obtidos indicam que a fusão zonal foi efetiva na obtenção de alumínio policristalino com grãos grosseiros e colaboram para melhorar a compreensão do processo. / The zone melting comprises a family of methods to control and to distribute impurities in which a small molten zone is moved slowly along a solid material, redistributing solute. It is used in materials purification, in a so-called zone refining process, but can also be used in homogeneous or discontinuous distribution of impurities and crystal growth. The zone melting applied to grain enlargement, leading to attain singlecrystalline or polycrystalline materials with coarse grains is so-called zone melting recrystallization (ZMR) and its major use is the preparation of materials for electronic and photovoltaic devices process especially silicon. In the last decade, progress in ZMR technology was done mainly in three areas: equipment development, process control, and numerical modeling, but only a few researches handle on zone melting at low temperatures and it limits the application of the method to other semiconductor materials such as III, IV or V group elements. Thus, this study aims to examine the influence of scan rate, zone width and the number of zone passes in the zone melting process of low melting point materials about getting polycrystalline materials with coarse grains. For this, horizontal zone melting equipment was built and pure aluminum bars (P0610) were zone melted, varying the parameters mentioned above. The macrostructure of the samples was analyzed and the results of the number of grains per area were assessed by checking the influence of physical parameters previously mentioned and the thermal gradient and the constitutional supercooling. It was found that scan rate and zone width reduction in general, proved to be efficient in reducing the number of grains per area. The results indicate that the zone melting was effective in obtaining aluminum polycrystalline coarse-grained and collaborate to improve the understanding of the process.

A fusão zonal compreende uma família de métodos para controle e distribuição de impurezas na qual uma pequena zona fundida é deslocada lentamente ao longo de um material sólido, redistribuindo o soluto. Ela é utilizada na purificação de materiais, num processo denominado refino zonal, mas também pode ser usada na distribuição homogênea ou descontínua de impurezas e no crescimento de cristais. A fusão zonal aplicada ao crescimento de grãos, visando a obtenção de materiais mono ou policristalinos com grãos grosseiros é denominada recristalização por fusão zonal (ZMR) e seu uso principal é na preparação de materiais para fabricação de dispositivos eletrônicos e fotovoltaicos, especialmente em silício. Na última década, o progresso na tecnologia ZMR foi feito principalmente em três campos: desenvolvimento de equipamento, controle de processo e modelagem numérica, mas somente algumas pesquisas abordam a fusão zonal a baixas temperaturas e restringem a aplicação do método a outros materiais semicondutores como os elementos do grupo III, IV ou V. Deste modo, o presente trabalho tem como objetivo verificar a influência da velocidade de varredura, da largura da zona fundida e do número de passadas no processo de fusão zonal de materiais de baixo ponto de fusão, em relação à obtenção de materiais policristalinos com grãos grosseiros. Para tanto, construiu-se um equipamento de fusão zonal horizontal e barras de alumínio puro (P0610) foram submetidas ao processo, variando os parâmetros acima referidos. A macroestrutura das amostras foi analisada e os resultados obtidos do número de grãos/área foram interpretados, verificando a influência dos parâmetros físicos anteriormente citados, do gradiente térmico e do super-resfriamento constitucional. Verificou-se que a redução na velocidade de varredura e na largura da zona fundida, de modo geral, mostrou-se eficiente em relação à diminuição do número de grãos por área. Os resultados obtidos indicam que a fusão zonal foi efetiva na obtenção de alumínio policristalino com grãos grosseiros e colaboram para melhorar a compreensão do processo. / The zone melting comprises a family of methods to control and to distribute impurities in which a small molten zone is moved slowly along a solid material, redistributing solute. It is used in materials purification, in a so-called zone refining process, but can also be used in homogeneous or discontinuous distribution of impurities and crystal growth. The zone melting applied to grain enlargement, leading to attain singlecrystalline or polycrystalline materials with coarse grains is so-called zone melting recrystallization (ZMR) and its major use is the preparation of materials for electronic and photovoltaic devices process especially silicon. In the last decade, progress in ZMR technology was done mainly in three areas: equipment development, process control, and numerical modeling, but only a few researches handle on zone melting at low temperatures and it limits the application of the method to other semiconductor materials such as III, IV or V group elements. Thus, this study aims to examine the influence of scan rate, zone width and the number of zone passes in the zone melting process of low melting point materials about getting polycrystalline materials with coarse grains. For this, horizontal zone melting equipment was built and pure aluminum bars (P0610) were zone melted, varying the parameters mentioned above. The macrostructure of the samples was analyzed and the results of the number of grains per area were assessed by checking the influence of physical parameters previously mentioned and the thermal gradient and the constitutional supercooling. It was found that scan rate and zone width reduction in general, proved to be efficient in reducing the number of grains per area. The results indicate that the zone melting was effective in obtaining aluminum polycrystalline coarse-grained and collaborate to improve the understanding of the process.

A fusão zonal compreende uma família de métodos para controle e distribuição de impurezas na qual uma pequena zona fundida é deslocada lentamente ao longo de um material sólido, redistribuindo o soluto. Ela é utilizada na purificação de materiais, num processo denominado refino zonal, mas também pode ser usada na distribuição homogênea ou descontínua de impurezas e no crescimento de cristais. A fusão zonal aplicada ao crescimento de grãos, visando a obtenção de materiais mono ou policristalinos com grãos grosseiros é denominada recristalização por fusão zonal (ZMR) e seu uso principal é na preparação de materiais para fabricação de dispositivos eletrônicos e fotovoltaicos, especialmente em silício. Na última década, o progresso na tecnologia ZMR foi feito principalmente em três campos: desenvolvimento de equipamento, controle de processo e modelagem numérica, mas somente algumas pesquisas abordam a fusão zonal a baixas temperaturas e restringem a aplicação do método a outros materiais semicondutores como os elementos do grupo III, IV ou V. Deste modo, o presente trabalho tem como objetivo verificar a influência da velocidade de varredura, da largura da zona fundida e do número de passadas no processo de fusão zonal de materiais de baixo ponto de fusão, em relação à obtenção de materiais policristalinos com grãos grosseiros. Para tanto, construiu-se um equipamento de fusão zonal horizontal e barras de alumínio puro (P0610) foram submetidas ao processo, variando os parâmetros acima referidos. A macroestrutura das amostras foi analisada e os resultados obtidos do número de grãos/área foram interpretados, verificando a influência dos parâmetros físicos anteriormente citados, do gradiente térmico e do super-resfriamento constitucional. Verificou-se que a redução na velocidade de varredura e na largura da zona fundida, de modo geral, mostrou-se eficiente em relação à diminuição do número de grãos por área. Os resultados obtidos indicam que a fusão zonal foi efetiva na obtenção de alumínio policristalino com grãos grosseiros e colaboram para melhorar a compreensão do processo. / The zone melting comprises a family of methods to control and to distribute impurities in which a small molten zone is moved slowly along a solid material, redistributing solute. It is used in materials purification, in a so-called zone refining process, but can also be used in homogeneous or discontinuous distribution of impurities and crystal growth. The zone melting applied to grain enlargement, leading to attain singlecrystalline or polycrystalline materials with coarse grains is so-called zone melting recrystallization (ZMR) and its major use is the preparation of materials for electronic and photovoltaic devices process especially silicon. In the last decade, progress in ZMR technology was done mainly in three areas: equipment development, process control, and numerical modeling, but only a few researches handle on zone melting at low temperatures and it limits the application of the method to other semiconductor materials such as III, IV or V group elements. Thus, this study aims to examine the influence of scan rate, zone width and the number of zone passes in the zone melting process of low melting point materials about getting polycrystalline materials with coarse grains. For this, horizontal zone melting equipment was built and pure aluminum bars (P0610) were zone melted, varying the parameters mentioned above. The macrostructure of the samples was analyzed and the results of the number of grains per area were assessed by checking the influence of physical parameters previously mentioned and the thermal gradient and the constitutional supercooling. It was found that scan rate and zone width reduction in general, proved to be efficient in reducing the number of grains per area. The results indicate that the zone melting was effective in obtaining aluminum polycrystalline coarse-grained and collaborate to improve the understanding of the process.

Cerca de 10% dos casos de câncer de mama e/ou ovário são caracterizados como hereditários, onde a presença de mutações germinativas no gene de suscetibilidade BRCA1 aumenta o risco de desenvolver esses cânceres durante a vida da mulher. O BRCA1 é um gene supressor tumoral envolvido na resposta de danos ao DNA, controle do ciclo celular, na remodelação da cromatina, ubiquitinação e regulação da transcrição. O presente estudo tem como objetivo central caracterizar as mutações do gene BRCA1 associadas a Síndrome Hereditária do Câncer de Mama e/ou Ovário (HBOC) em pacientes atendidos no Serviço de Aconselhamento Genético do Câncer do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP/USP). Os vinte e dois éxons codificantes do BRCA1 foram analisados utilizando o método de High Resolution Melting (HRM) para triagem de mutações pontuais, seguido pelo sequenciamento de DNA dos casos selecionados para validação. A técnica de MLPA (Multiplex Ligation-dependent Probe Amplification) também foi usada para detectar grandes deleções e duplicações. Uma vez confirmada a mutação, membros da família considerados de alto risco, serão investigados para a mutação específica, a fim de proporcionar-lhes um aconselhamento genético apropriado para a detecção precoce do câncer. No presente estudo, foram investigados 41 pacientes que preencheram os critérios para o teste genético de acordo com NCCN Clinical Practice Guidelines in Oncology v.1.2010. Um total de 21 mutações foram identificadas, duas das quais são patogênicas: a deleção dos éxons 17-18 e a deleção dos éxon 19. Ambas estão localizadas no domínio BRCT do gene BRCA1, essencial para a ligação de fosfoproteínas críticas para a ativação do complexo de reparo do DNA. Outra mutação, a S616del, foi tratada como patogênica, mas apresenta informações controversas em diferentes estudos. O trabalho também identificou uma nova mutação, Val1117Ile. Um estudo de haplótipos das mutações identificadas nos pacientes foi realizado e revelou que um dos haplótipos, denominado de 6, contendo quatro resíduos mutados (871Leu, 1038Gly, 1183Arg e 1613Gly) estava presente em 50% das pacientes. O estudo de associação com 82 indivíduos saudáveis, mostrou diferença significativa (p=0,026) nos pacientes, sugerindo assim um risco aumentado de HBOC. Adicionalmente, foi analisada a mutação germinativa R337H no gene p53 para os casos suspeitos de Síndrome de Li-Fraumeni. Em síntese, o presente estudo contribui com a identificação de uma nova mutação não-sinônina no gene BRCA1 e sugere que o haplótipo 871Leu-1038Gly-1183Arg-1613Gly possa conferir risco aumentado do câncer de mama e/ou ovário em pacientes diagnosticados com HBOC. / About 10% of cases of breast and/or ovary cancer are characterized as hereditary, where the presence of germline mutations in susceptibility BRCA1 gene increases the risk of developing these cancers during womans lifetime. BRCA1 is a tumor suppressor gene involved in DNA damage response, cell cycle control, chromatin remodeling, ubiquitination and transcriptional regulation. The present study aims to characterize BRCA1 gene mutations associated with Hereditary Breast/Ovary Cancer Syndrome (HBOC) in patients from the Cancer Genetic Counseling Service of the General Hospital of the Medical School of Ribeirão Preto, University of São Paulo (HCFMRP-USP). The twenty two coding exons of BRCA1 were analyzed using High Resolution Melting (HRM) method for the screening of point mutations, followed by DNA sequencing of the cases selected to validation. MLPA (Multiplex Ligation-dependent Probe Amplification) technique was also used to detect gross deletions and duplications. Once confirmed the mutation, family members most at risk will be analyzed for the specific mutation in order to provide them with an appropriate genetic counseling for early detection of cancer. In the present study, we investigated 41 patients that fulfilled the criteria for genetic testing according to NCCN Clinical Practice Guidelines in Oncology v.1.2010. A total of 21 mutations were identified, two of them are pathogenic: a deletion of exons 17-18 and a deletion of exon 19. Both of them are located in the BRCT domain of BRCA1 gene, impairing the binding of essential phosphoproteins critical to the activation of DNA repair complex. Another mutation, S616del, shows controversial information about its pathogenesis in different studies.The present study also describes a new mutation, Val1117Ile. A study of haplotypes of the mutations identified in patients was performed and revealed that one of the haplotypes, called 6, containing four mutated residues (871Leu, 1038Gly, and 1183Arg 1613Gly) was present in 50% of patients. The association study with 82 healthy subjects showed a significant difference (p = 0.026) in patients, thus suggesting an increased risk for HBOC. Additionally, the germline mutation R337H on p53 gene was also analyzed in the present study for suspected cases of Li-Fraumeni Syndrome. In summary, this study contributes to the identification of a new missense mutation in the BRCA1 gene and suggests that the haplotype-871Leu-1038Gly 1183Arg-1613Gly may confer increased risk of breast cancer and / or ovarian cancer in patients diagnosed with HBOC.

Method selective laser melting can produce metal parts by using 3D printing. This diploma thesis deals with the influence of process parameters on the workability of AlSi9Cu3 high-strength aluminum alloy using selective laser melting. The theoretical part deals with relations between process parameters and identifies phenomena occurring during the processing of metals by this technology. It also deals with conventionally manufactured aluminum alloy AlSi9Cu3. In the work, material research is performed from single tracks tests, porosity tests with different process parameters and mechanical testing. Here are showing the trends of porosity change at scanning speed, laser power, individual laser stop distance, bulk energy, and powder quality. The workability of the material can be judged by the degree of relative density achieved. Simultaneously the values of the achieved mechanical properties of the selected process parameters are presented. The data obtained are analyzed and compared with literature.