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This Master's thesis deals with question of the development of self-checking polymorphic circuits. It deals with a traditional way of creating reliable and self-checking circuits, presenting basic principles and methods. Also a method of Cartesian Genetic Programming for development of combinational circuits is explained. This thesis describes concepts of polymorphic gates and circuits and their benefits in practical use. Some existing self-checking polymorphic circuits are presented and their self-checking capabilities are analyzed. A proposal of realization of a design system for self-checking polymorphic circuits is given. A design system has been built based on presented specification and an application allowing simulations and analysis of system-proposed solutions has been created. Variety of experiments have been performed at created system and several interesting solutions have been acquired. At the end, conclusion is given and benefits of MSc. project are discussed.

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A instabilidade genômica tem sido amplamente usada para caracterizar células cancerosas. Alterações genéticas em queratose actínica (QA) e carcinoma espinocelular (CEC) foram investigadas pelo método de random amplified polymorphic DNA (RAPD) e análise de microssatélites com o objetivo de encontrar marcadores moleculares para auxiliar o prognóstico e o diagnóstico médico. O DNA foi obtido de pacientes brasileiros cirurgiados e tratados no Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, totalizando oito QAs, 24 CECs, e tecidos normais e/ou leucócitos correspondentes. Os microssatélites estudados foram D6S251, D6S252, D9S15, D9S50, D9S52, D9S180, D9S196, D9S280 e D9S287, tendo em vista a detecção de instabilidade genômica representada por perda de heterozigosidade (LOH) e instabilidade de microssatélites (MSI). Os \"primers\" usados para comparar os padrões de RAPD foram OPA-2, OPA-7, OPA-13, OPA-17, OPB-8, OPB-13, OPB-17 e OPB-19. Foi obtida correlação significativa na progressão de QA (1/8) para CEC (5/22) referente ao microssatélite D6S251. As diferenças nos padrões de DNA obtidos pelo método RAPD comparados aos controles foram maiores em lesões com maior grau de severidade segundo critério histológico. O mesmo padrão RAPD foi observado no controle e no tumor em 27% QA, 24% CEC I, 9% CEC II e 0% CEC III. Estes resultados mostram que o microssatélite D6S251 e o método de RAPD são informativos, podendo ser potenciais candidatos para auxílio no diagnóstico e prognóstico de QA e CEC. / Genomic instability has been widely used to characterize cancer cells. Genetic alterations in human actinic keratosis (AK) and squamous cell carcinomas (SCC) were investigated by the random amplified polymorphic DNA (RAPD) method, and microsatellite analysis. DNA was obtained from Brazilian patients diagnosed and treated in the School of Medicine of University of Sao Paulo out Clinics Hospital. Eight AKs, 24 SCCs, and 4 BCCs, matched to normal skin tissue and/or leukocytes were studied. Microsatellite patterns were obtained with primers specific to amplify D6S251, D6S252, D9S15, D9S50, D9S52, D9S180, D9S196, D9S280, and D9S287, in search of detection Loss of heterozygosity (LOH) and Microsatellite instability (MSI). The RAPD primers were: OPA-2, OPA-7, OPA-13, OPA-17, OPB-8, OPB-13, OPB-17, and OPB-19. A significant correlation was obtained regarding the progress of AK (1/8) to SCC (5/22) detected with the D6S251 microsatellite. DNA fingerprint obtained with RAPD primers were altered in increasing number of samples, according to their histological degree of differentiation. Similar RAPD patterns were observed in tumor and control in 27% AK, 24% SCC I, 9% SCC II, and zero SCC III. These results suggest microsatellite D6S251 and RAPD method to be potential tools in diagnosis and prognosis of AK and SCC.

<p>BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTTP).</p><p>AIM: To characterize the genetic basis of ABL in two unrelated patients.</p><p>RESULTS: In the first patient, the substitution c.1911C>T in exon 12 of the <em>MTTP</em> gene, resulting in the protein substitution p.P552L, was discovered using mutation screening. The parents are heterozygous and the proband is a homozygous carrier of this substitution. Using restriction fragment length polymorphism (RFLP), 100 control subjects were analyzed and none carried the substitution indicating that it is a novel <em>MTTP </em>mutation. Sequencing of the other ABL patient showed that the proband carried a homozygous single base insertion, at position  c.2342IVS16+2-3insT, located at the donor splice-site of intron 16 resulting in skipping of exon 16 and truncation of the protein. The proband's mother is heterozygous for the insertion while the father does not carry the insertion. Multiplex ligation-dependent probe amplification (MLPA) did not identify any deletion encompassing exon 16 in the proband, father or mother. Nonpaternity was excluded using polymorphic markers from several chromosomes. Haplotype analysis using markers spanning chromosome 4 revealed  heterodisomy (two homologous chromosomes) of 4p and the distal part of 4q, and isodisomy (duplication of one chromosome) of 4q12-4q26.</p><p>CONCLUSION: These data show that the cause of ABL in one of the patients is a missense mutation, p.P552L, while the cause of ABL in the other patient is due to uniparental disomy, probably resulting from non-disjunstion in meiosis I.</p>

BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTTP). AIM: To characterize the genetic basis of ABL in two unrelated patients. RESULTS: In the first patient, the substitution c.1911C&gt;T in exon 12 of the MTTP gene, resulting in the protein substitution p.P552L, was discovered using mutation screening. The parents are heterozygous and the proband is a homozygous carrier of this substitution. Using restriction fragment length polymorphism (RFLP), 100 control subjects were analyzed and none carried the substitution indicating that it is a novel MTTP mutation. Sequencing of the other ABL patient showed that the proband carried a homozygous single base insertion, at position  c.2342IVS16+2-3insT, located at the donor splice-site of intron 16 resulting in skipping of exon 16 and truncation of the protein. The proband's mother is heterozygous for the insertion while the father does not carry the insertion. Multiplex ligation-dependent probe amplification (MLPA) did not identify any deletion encompassing exon 16 in the proband, father or mother. Nonpaternity was excluded using polymorphic markers from several chromosomes. Haplotype analysis using markers spanning chromosome 4 revealed  heterodisomy (two homologous chromosomes) of 4p and the distal part of 4q, and isodisomy (duplication of one chromosome) of 4q12-4q26. CONCLUSION: These data show that the cause of ABL in one of the patients is a missense mutation, p.P552L, while the cause of ABL in the other patient is due to uniparental disomy, probably resulting from non-disjunstion in meiosis I.

The characterization of the banana germplasm collection from Rubona - Rwanda was investigated using morphological and cytological characteristics of the genomic groups. Genetic diversity was assessed using Random Amplified Polymorphic DNA analysis. The survey was conducted to evaluate the distribution of banana cultivars in the four major growing regions of Rwanda. A total of 90 accessions from the National Banana Germplasm Collection at Rubona Rwanda were characterized and six characters of the fingers (length, width, weight, green life, post green life and length/width ratio) were subjected to principal component analysis (PCA). The cooking and beer clones were separated. The cooking clones were further grouped into three clone sets: Musakala, Nakabululu, and one that constitutes Nakitembe and Nfuuka clone sets. The AAB genomic group was separated from AAA, AB and ABB genomic groups. The results from the survey showed that East African Highland bananas are the most important genotype group in the four major banana growing regions of Rwanda ranging between 60 - 90% of banana mats counted. Several new Highland banana cultivars were recorded, such as 'Intokatoke', 'Igihuna', 'Ingenge', 'Ingaju', 'Icyerwa', 'Mitoki', 'Madamu', 'Inkokobora', 'Intokekazi', 'Bugoyi', 'Ishoki'. Amongst these cultivars, some were classified as cooking and others as brewing bananas. However, in the National Banana Germplasm Collection at Rubona - Rwanda, the uses of these cultivars are recorded differently therefore increasing the need for agro-morphological characterization. The assessment of ploidy level of accessions from the National Banana Germplasm Collection at Rubona - Rwanda, by flow cytometry showed misclassification of some accessions such as 'Pomme', 'Kamaramasenge', 'Gisubi kayinja', 'Gisubi kagongo', and 'Dibis' which were classified as diploid, diploid, triploid, and tetraploid respectively. They IV were found to be triploid, triploid, triploid, diploid and triploid. All these bananas were recently introduced into Rwanda, while the endemic Highland bananas were triploid. The genomic group and genetic similarities of 49 accessions were investigated using Random Amplified Polymorphic DNA markers. The genomic group of bananas assessed were established using OPA-18 (PILLAY et al., 2000) and OPG-17 primers. These primers showed bands 441 and 443 base pairs (bp) respectively for the accessions having only the B genome. Whilst they were absent for the accessions " having an A genome. The genetic similarity was estimated via a Simple Matching coefficient which showed the lowest value 0.46 measured between 'Ingumba' and 'Ishika 'and the highest value of 0.85 between 'Kirayenda' and 'Inyabukuwe'. The data of matrix of coefficient of similarity was subjected to cluster analysis with unweighted pair group method with arithmetic average (UPGMA). Each accession was clearly separated demonstrating the usefulness of RAPDs in analysis of genetic diversity. The results of this study are very important to the Curator of the banana germplasm collection in Eastern Central Africa and for the future breeding of this crop. / Thesis (Ph.D.)-University of KwaZulu-Natal, Pietermaritzburg, 2006.

[Truncated abstract] Polymorphic Alu insertions (POALINs) are known to contribute to the variation and genetic diversity of the human genome. In this report specific POALINs of the Major Histocompatibility Complex (MHC) were studied. Previous population studies on the MHC POALINs have focused on individuals of African, European and Asian descent. In this study, we expand the research by studying a new and previously uncharacterised population, focusing on the Bedouin from the Middle East. Specifically we report on the individual insertion frequencies of four POALINs within the MHC class I region of this population. POALINs are members of a young Alu subfamily that have only recently been inserted into the human genome. POALINs are either present or absent at particular sites. Individuals that share the inserted (or deleted) polymorphism inherited the insertion (or deletion) from a common ancestor, making Alu alleles identical by decent. In population genetics a comparison of the resulting products from each population can then be done by comparing the lengths of the PCR products in a series of unrelated individuals and may also detect polymorphisms with regard to the presence or absence of the Alu repeats. As a direct result of their abundance and sequence identity, they promote genetic recombination events that are responsible for large-scale deletions, duplication and translocations. The deletions occur mostly in the A-T rich regions and have found to be unlikely to have been created independently of the insertions of the Alu elements (Callinan et al, 2005) The easy genotyping of the POALINs has proven to be very valuable as lineage markers for the study of human population genetics, pedigree and forensics as well as genomic diversity and evolution. POALINs have been used in a range of applications, primarily focusing on anthropological analysis of human populations. As a result of its ease of use and its utility as a marker in human evolutions studies, combining the POALINs along with other markers used in forensics could lead to improved identity testing in forensic science. More specifically, in combination with more traditional markers, race specific genotypes and haplotypes could be used for profiling crime scene samples. ... This is supported by previously reported molecular data using various types of genetic markers. In a study using six separate Alu genes, Antunez-de-Mayolo et al were able to generate a phylogenetic tree, in which the biogeographical groups followed a pattern. The biogeographical groups started with African populations that were found to relate closely to the hypothetical ancestral African population. The African populations were then followed in order by Southwest Asian populations, European populations which include Middle Eastern groups (Antunez-de-Mayolo et al, 2002). This study shows the similarities and differences between the frequencies of the Middle Eastern Bedouin and the rest of the compared populations. Though no clear results were determined, the information from the POALINs along with information provided from other genetic markers can lead to further research on the Bedouin population and the improvement of the forensic population database in order to accurately test individual ethnic background of samples to be analysed.

Deposition of dispersed phase from flowing dispersions onto a substrate surface is of utmost relevance for various industrial processes like fouling of sparingly soluble salts, such as CaCO3 and CaSO4 in heat exchangers and desalination evaporators which tend to form deposits on flow surfaces of tubes or pipelines conveying hard water and in water filtration and purification processes since concentration of CaCO3 in many natural water resources is equal to or greater than the saturation level. The study of deposition is also of intrinsic interest for biophysics and colloid science where vascular calcification i.e. precipitation and deposition of calcium phosphates (hydroxyapatites) in the muscular layer of the blood reduces arterial compliance and promotes congestive heart failure. Experiments were conducted on straight, circular cross section silica tubing of inner di-ameter (ranging from 0.88 mm to3.40 mm) to study the effect of electrostatic interaction and hydrodynamics on the deposition behavior of CaCO3 on silica surface when streams of aqueous solutions of Ca(NO3)2 and Na2CO3 with a concentration of 40.0 g l−1 and 25.9gl−1 respectively flowing at a volumetric flow rate of 1 l h−1 each is mixed to form CaCO3 dispersion which was then transported through silica tubing at a steady volumetric flow rate of 2lh−1. The in situ phenomenology of CaCO3 particles transport, deposition, and evolution of spatial and temporal patterns of the CaCO3 deposition on the silica surface along with the dendritic growth of CaCO3 during the flow was visually documented with the aid of a 100X optical microscope. The study discussed the deposition behavior of dispersed phase of CaCO3 from its aqueous dispersion on the silica tubing during flow and attributed charge inversion from negative to positive of silica surface, due to the adsorption of Na+ formed during precipitation reaction of CaCO3, as a plausible reason for the reversal of electrostatic interaction from attraction between initially negatively charged silica surface and positively charged CaCO3 particles which promoted deposition and subsequent evolution of patterns of CaCO3 deposition on the silica surface during the early stage of experiments to repulsion between finally net positively charged silica surface and positively charged CaCO3 particles which resulted in retarded deposition and subsequent emergence of sparsely adhered CaCO3 agglomerates as localized, limited patches of CaCO3 deposits on the silica surface during the later stage of the experiments

Submitted by Milena Rubi ( ri.bso@ufscar.br) on 2017-11-07T17:07:00Z No. of bitstreams: 1 SANTOS_Carlos_2017.pdf: 906783 bytes, checksum: bccefa4afd7b8ef5d98df40bff297122 (MD5) / Approved for entry into archive by Milena Rubi ( ri.bso@ufscar.br) on 2017-11-07T17:07:12Z (GMT) No. of bitstreams: 1 SANTOS_Carlos_2017.pdf: 906783 bytes, checksum: bccefa4afd7b8ef5d98df40bff297122 (MD5) / Approved for entry into archive by Milena Rubi ( ri.bso@ufscar.br) on 2017-11-07T17:07:22Z (GMT) No. of bitstreams: 1 SANTOS_Carlos_2017.pdf: 906783 bytes, checksum: bccefa4afd7b8ef5d98df40bff297122 (MD5) / Made available in DSpace on 2017-11-07T17:07:31Z (GMT). No. of bitstreams: 1 SANTOS_Carlos_2017.pdf: 906783 bytes, checksum: bccefa4afd7b8ef5d98df40bff297122 (MD5) Previous issue date: 2017-05-09 / Não recebi financiamento / The productive capacity is conventionally estimated by anamorphic or polymorphic calculated site curves; however, these curves have some limitations. Due to these limitations, the objective of this work was to evaluate the creation of growth curves for site classification by the nonlinear quantile regression method and to compare them with the curves generated by the algebraic difference method. The database was collected in two mesoregions of the state of São Paulo (Paulista and Bauru Metropolitan Macro), with 460 measurements in 98 plots with distinct periods in Eucalyptus sp. The site curves were adjusted according to the Chapman-Richards model using the algebraic difference method for anamorphic and polymorphic curves and nonlinear quantum regression (RNLQ). The results of this work allowed to conclude that the site curves adjusted by the RNLQ method are superior to the curves generated by the algebraic difference method by graphical analysis of the residuals with smaller ranged of the errors and greater homogeneity and residual standard error with lower values in the classes in general. / A capacidade produtiva é estimada convencionalmente por meio de curvas de sítio calculadas de forma anamórfica ou polimórfica, contudo, estas curvas possuem algumas limitações. Devido a estas limitações, o objetivo deste trabalho foi avaliar a criação de curvas de crescimento para classificação de sítio pelo método de regressão não linear quantílica e compará-las com as curvas geradas pelo método da diferença algébrica. A ba se de dados foi coletada em duas mesorregiões do estado de São Paulo (Macro Metropolitana Paulista e Bauru), com 460 medições em 98 parcelas com períodos distintos em Eucalyptus sp. As curvas de sítio foram ajustadas segundo modelo de Chapman-Richards pelo método da diferença algébrica para curvas anamórficas e polimórficas e regressão não linear quantílica (RNLQ). Os resultados deste trabalho permitiram concluir que as curvas de sítio ajustadas pelo método da RNLQ são superiores às curvas geradas pelo método da diferença algébrica pela análise gráfica dos resíduos com menor amplitude dos erros e maior homogeneidade e erro padrão residual com menores valores nas classes em geral.