Procedimentos de teste para dispositivos eletrônicos tem sido construídos de forma a lidar com problemas, tais como geração de padrões de teste, cobertura de falhas e outros parâmetros tais como custo e tempo. Com o surgimento dos circuitos VLSI (Very Large Scale Integration), tais como os processadores, os problemas do teste tem aumentado. Com relação aos processadores, sua complexidade é um convite para o uso de procedimentos de teste funcionais, ignorando a estrutura física dos circuitos. Adicionalmente, informações sobre a estrutura do processador são geralmente desconhecidas por parte do usuário. No nível funcional, um processador é tratado como um sistema composto por blocos funcionais, cuja descrição pode ser obtida no manual do usuário. Cada bloco e caracterizado pela sua função, como por exemplo, a unidade lógica e aritmética, registradores, memória, etc... Testar o processador consiste em exercitar cada bloco com padrões de teste determinados. A utilização do processador transputer em situações onde se faz necessário um certo nível de confiabilidade depende da utilização de técnicas para detecção on-line. No presente trabalho é proposto um procedimento para o teste funcional do transputer. O teste funcional aqui proposto permite detecção de falhas on-line, em um contexto de aplicação periódica (pela suspensão temporária mas sem alteração do contexto da aplicação do usuário), com baixa degradação no desempenho global do sistema. Hipóteses e procedimentos relacionados a fabricação de circuitos não são considerados. Para possibilitar o uso de técnicas de teste convencionais, o transputer IMS T800 é particionado em blocos funcionais e um modelo para o teste, baseado na organização desse componente, e proposto. Este modelo é apoiado pela similaridade desse processador com um sistema microprocessado. Após o particionamento cada bloco funcional pode ser testado em separado; para os blocos que possuem organização como a de microprocessadores convencionais (tais como parte da CPU e a FPU), utiliza-se como base o método proposto por Robach and Saucier [ROB80]. De acordo com este método de teste funcional, as instruções do processador são modeladas por intermédio de grafos, que formam a base para definição de um conjunto mínimo de instruções. A execução desse conjunto exercita todos os elementos pertencentes ao respectivo bloco funcional do transputer. Entretanto, o procedimento proposto não é uma aplicação direta da metodologia citada, devido a características particulares do transputer, especialmente no que diz respeito ao paralelismo de operações, e sua estrutura de blocos internos. Com relação aos testes on-line, a utilização de um conjunto de instruções reduzido possibilita a realização de um teste rápido, reduzindo perdas de desempenho. Para os blocos restantes, de acordo com suas características, são construídos procedimentos de teste específicos. A freqüência de execução é ajustável para cada bloco. Dependendo das exigências da aplicação, alguns procedimentos podem ser omitidos, reduzindo a carga provocada pelo procedimento de teste no desempenho do sistema. A validação do procedimento de teste é realizada de duas maneiras: injeção de falhas, para verificar a capacidade de detecção: e avaliação de desempenho, para identificar o nível de degradação causado pela utilização do procedimento de teste em um sistema genérico. Apesar desse trabalho ter sido desenvolvido com base na estrutura da maquina TNODE [TEL91] e na abordagem de teste global descrita em [NUN93b], o procedimento de teste proposto pode ser utilizado em qualquer sistema composto por transputers, cujos parâmetros de aplicação se enquadrem nos requisitos usados neste trabalho. / Test procedures for electronic devices have been planned in order to deal with problems as test pattern generation, fault coverage and other parameters as cost and time. With the advent of very large scale integration (VLSI) circuits, such as the microprocessors, the test problems have arised. Concerning processors, their complexity is an invitation to the use of functional test procedures, ignoring the physical structure of the circuit. Further, structural information about the processor is, in general, unknown by users. In a functional level, a processor is seen as a system made up of functional blocks, whose description can be obtained from the user's manual. Each block is characterized by its function, as arithmetic and logic unit, registers, memory, etc... Testing the processor consists of exercising every block with specified test patterns. The use of the transputer processor in situations where reliability is needed depends on the use of on-line detection techniques. In this work, a functional test procedure for the transputer is proposed. The functional test here proposed intends to allow on-line fault detection, in a context of periodical application, with low degradation in global system performance. Hypotheses and procedures related to the fabrication process are not concerned. In order to make possible the use of conventional test techniques, the IMS T800 transputer is partitioned in functional blocks and a test model, based on the architecture of this component, is proposed. This model is supported by the similarity of this processor with a microprocessor system. Then each functional block may be tested in separate; for the blocks that have conventional microprocessor architecture (as part of the CPU and the FPU), the method proposed by Robach and Saucier [ROB80] is used. According to this functional test method, processor instructions are modeled by means of graphs which are the basis to find a minimal instruction set. The execution of this set exercises all elements that belong to the respective functional block of the transputer. Therefore, it is not a straight application of that methodology due to particular characteristics of the transputer, specially concerning the parallelism of operation and its internal blocks structure. Concerning on-line tests, the use of a reduced instruction set allows a fast test realization, reducing the overhead over system performance. For the remainder blocks, specific test procedures are built according to their features. The frequency of execution is adjustable to each block. Depending on the application constraints, some procedures may be omitted, reducing the overhead produced by the test procedure over the system performance. The validation of the test procedure may be done by means of: fault injection, to verify the faults coverage parameters; and performance evaluation, to identify degradation level caused by the inclusion of test procedure in a generic system. Although this work has been developed with basis in the structure of the T-NODE machine [TEL91] and the global test approach described in [NUN93b], it can be used in other transputer systems whose application parameters are similar to those here used.

A presente dissertação deseja mostrar a utilização do estudo de confiabilidade como uma ferramenta de melhoria de projeto de um produto. Para atingir o objetivo estudou-se a melhoria de um retentor automotivo através do estudo de sua confiabilidade e utilizando técnicas de engenharia do valor. Com esse estudo pretende-se mostrar a relação dos dados de campo e ensaios funcionais utilizados. Através da análise dos dados de campo, foi selecionada uma característica funcional a ser melhorada no produto. A técnica de engenharia do valor aplicada ao produto resultou na variável que deveria ser melhorada no produto, e a análise de confiabilidade antes e após a alteração no produto, juntamente com os ensaios funcionais acelerados mostram a eficácia da melhoria realizada no produto. / This research aims to show a way to use the reliability study as a tool to guarantee the improvements in a product design. To reach the goal, a improvement in a oil seal was executed through the study of its reliability and using the value engineer technique. This study aims to show the relationship between the field information and functional tests. Through the analysis of field information, the functional characteristic that must be improved in the product was selected, and the value engineering technique application result in an element that must be improved in a product. The reliability study after and before the change in product, together with functional tests showed the efficiency of the change in the product aimingat improving its operational life.

L’efflux actif, qui permet aux bactéries d’exporter les antibiotiques vers le milieu extérieur est l’un des mécanismes majeurs de résistance aux antibiotiques. L’une des pompes d’efflux de Pseudomonas aeruginosa, MexA-MexB-OprM, est constituée de trois protéines : i) MexA, une protéine membranaire de fusion qui se trouve dans le périplasme ; ii) MexB qui se trouve dans la membrane interne et qui reconnaît l’antibiotique et initie son transport grâce à la force protomotrice et iii) OprM un canal qui se trouve dans la membrane externe. Durant ma thèse, j’ai mis au point un test fonctionnel pour MexA et MexB. Ce test est basé sur la coreconstitution de ces protéines avec la bactériorhodopsine, une protéine membranaire qui génère un gradient de proton après activation par la lumière. L’activité de MexB est suivie de manière indirecte via la mesure du pH. En mesurant le pH à l’intérieur des liposomes, on peut connaître l’activité de MexB puisque ce dernier utilise la force protomotrice pour transporter ses substrats. Une mesure fiable du pH peut être obtenue grâce à la pyranine dont la fluorescence varie avec le pH. Grâce à ce test, j’ai prouvé que MexB possède une activité basale qui ne dépend pas de la présence de substrat et que l’activité de MexB devient optimale quand cette dernière est reconstituée en présence de MexA. Dans un deuxième temps, j’ai mis au point un test fonctionnel pour la pompe d’efflux entière. Pour cela, je prépare deux types distincts de protéoliposomes. Dans le premier type de liposome, j’encapsule de la pyranine, (pour suivre l’activité de MexB) et un substrat de MexB qui est un agent intercalant de l’ARN. Ce substrat est faiblement fluorescent dans un environnement aqueux et fortement fluorescent lorsqu’il est intercalé dans l'ARN. MexB et MexA sont reconstitués dans ces liposomes. Dans le deuxième type de liposomes, je reconstitue OprM et j’encapsule de l’ARN. Ces deux types de liposomes sont alors mélangés. Lorsque la pompe s’assemble et qu’il y a un transport actif à travers cette dernière, deux phénomènes sont observés: la diminution de la fluorescence de la pyranine (car MexB fait entrer des protons dans le premier type de liposome pour transporter le substrat) et l’augmentation de la fluorescence du substrat car ce dernier s’intercale dans l’ARN se trouvant dans le deuxième type de liposome. En mélangeant les deux types de liposomes, j’obtiens une preuve de la reconstitution in vitro de la pompe entière et j’ai mis en évidence qu’OprM s’ouvre en présence de MexA et MexB et que sa présence augmente l’activité de MexB. / Among the various mechanisms developed by the bacteria to counter to the effect of antibiotics, active efflux is on the front line. In Pseudomonas aeruginosa, a Gram negative bacteria, efflux transporters are organized as multicomponent systems where MexB, the pump located in the inner membrane, works in conjunction with MexA, a periplasmic protein, and OprM, an outer membrane protein. MexB is a proton motive force-dependent pump with broad substrate specificity. During my PhD, I have designed an original activity assay for MexB and MexA. The pump is coreconstituted into proteoliposomes together with bacteriorhodopsin (BR), a light-activated proton pump. In this system, upon illumination with visible light, the photo-induced proton gradient created by the BR is shown to be coupled to the active transport of substrates through the pump. The activity of MexB is monitored indirectly. Since MexB uses the protomotive force to transport antibiotics, one can determine substrate transport though MexB by monitoring the pH inside the liposomes. For that purpose, pyranine, a fluorescent probe whose fluorescence yield increases with increasing pH, is encapsulated inside the liposomes. This test makes the investigation of the pump possible. In the absence of MexA, MexB has a basal activity which is not substrate-dependent. Once MexB is reconstituted together with MexA, its activity is specific and substrate-dependent. Then I worked on the reconstitution of the whole efflux pump. For this, I prepare two different kinds of liposomes: i) Liposomes with reconstituted MexA and MexB in which pyranine and a nucleic acid intercalating agent are encapsulated, ii) Liposomes with reconstituted OprM and encapsulated RNA. The activity of MexB is monitored thanks to the addition of EthB, a substrate of MexB, that is poorly fluorescent in aqueous medium and highly fluorescent when intercalated into RNA. Upon generation of a pH gradient, I observe two concomitant phenomena: the decrease of pyranine fluorescence, as MexB is using protons to transport the substrate, and the increase of the fluorescence of the RNA intercalating agent as a result of its interaction with RNA. I have successfully assembled the efflux pump and monitored transport through it from one liposome to the other. I have demonstrated that OprM needs to interact with MexA and MexB in order to open and that MexB activity is accelerated when the pump is assembled.

Le syndrome CHARGE (CS) est une maladie génétique rare caractérisée par de nombreuses anomalies congénitales, majoritairement causées par des altérations de novo du gène CHD7. Celui-ci code pour une protéine à chromodomaines, impliquée dans le remodelage ATP-dépendant de la chromatine. La grande majorité des altérations de CHD7 consiste en allèles nuls tels que des délétions, des substitutions non-sens ou des décalages du cadre de lecture. Nous avons réalisé le premier diagnostic moléculaire d’un patient Indonésien atteint du CS, en étudiant un panel de gènes (CHD7, EFTUD2, et HOXA1) par NGS (next-generation sequencing). Nous avons identifié une nouvelle mutation non-sens hétérozygote dans l’exon 34 du gène CHD7 (c.7234G>T ou p.Glu2412Ter). Par ailleurs, il n'existe pas d’analyse fonctionnelle qui permettrait de caractériser la pathogénicité des variants de la protéine CHD7 rencontrés chez des patients. C’est pourquoi l’objectif de ce travail est de mettre au point un test fonctionnel de la protéine CHD7, sous forme sauvage ou mutée. Pour cela, nous avons généré par mutagénèse dirigée des vecteurs codant pour trois variants faux-sens de CHD7 et le variant présentant une insertion de cinq acides aminés. Ensuite, les protéines CHD7, sous forme sauvage ou variante, ont été surexprimées dans la lignée HeLa. L’expression des protéines a été mise en évidence par western blot et par immunofluorescence. Pour étudier la fonctionnalité de CHD7, nous avons quantifié par RT-qPCR les transcrits de cinq gènes (l’ADNr 45S, SOX4, SOX10, MYRF, et ID2), dont la transcription est selon le littérature régulée par CHD7. Nous avons observé que l’expression de CHD7 sauvage entraînait une diminution significative et reproductible des quantités de transcrits correspondant à tous les gènes rapporteurs. Par contre, l’expression des quatre allèles variants de CHD7 n’avait aucun impact, ce qui suggère que ces variants ne sont pas fonctionnels. Par ailleurs, nous avons appliqué notre test biologique dans des cellules de la lignée SH-SY5Y, pour lesquelles nous avons introduit une mutation faux-sens dans le génome en utilisant la technique CRISPR/Cas9. Lorsque ce variant était exprimé, les niveaux de transcription des cinq gènes rapporteurs n’étaient pas significativement différents de ceux observés dans les cellules où les deux allèles de CHD7 avaient été invalidés. Par conséquent, les variants étudiés peuvent être répertoriés comme résultant de mutations causales du CS. / CHARGE syndrome (CS) is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes a chromodomain protein, involved in the ATP-dependent remodeling of chromatin. The vast majority of CHD7 alterations consists in null alleles like deletions, non-sense substitutions or frameshift-causing variations. We report the first molecular diagnosis of an Indonesian CS patient by a targeted NGS (next-generation sequencing) gene panel (CHD7, EFTUD2, and HOXA1). We identified a novel heterozygous nonsense mutation in exon 34 of CHD7 (c.7234G>T or p.Glu2412Ter). Functional analyses to confirm the pathogenicity of CHD7 variants are lacking and urgently needed. Therefore, the aim of this study was to establish a functional test for wild-type (WT) or variants of CHD7 protein found in CS patients. Using an expression vector encoding CHD7, three variants harboring an amino acid substitution and one variant with a five-amino acid insertion were generated via site-directed mutagenesis. Then CHD7 proteins, either wild-type (WT) or variants, were overexpressed in HeLa cell line. Protein expression was highlighted by western blot and immunofluorescence. We then used real-time RT-PCR to study CHD7 functionality by evaluating the transcript amounts of five genes whose expression is regulated by CHD7 according to the literature. These reporter genes are 45S rDNA, SOX4, SOX10, ID2, and MYRF. We observed that, upon WT-CHD7 expression, the reporter gene transcriptions were downregulated, whereas the four variant alleles of CHD7 had no impact. This suggests that these alleles are not polymorphisms because the variant proteins appeared non-functional. Furthermore, we applied our biological assay in SH-SY5Y cell line in which endogenous CHD7 gene was mutated using the CRISPR/Cas9 technique. Then, we observed that when a CHD7 missense variant was expressed, the transcription levels of the five reporter genes were non-significantly different, compared with the cells in which both CHD7 alleles were knocked-out. Therefore, the studied variants can be considered as disease-causing of CS.

Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2014-08-06T11:56:33Z No. of bitstreams: 2 license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Teste_funcional_sistematico_estendido_uma_contribuicao_na_aplicacao_de_criterios_de_teste_caixa_preta.pdf: 6570768 bytes, checksum: 986a111f01281c84429d66513d0a3a54 (MD5) / Made available in DSpace on 2014-08-06T11:56:33Z (GMT). No. of bitstreams: 2 license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Teste_funcional_sistematico_estendido_uma_contribuicao_na_aplicacao_de_criterios_de_teste_caixa_preta.pdf: 6570768 bytes, checksum: 986a111f01281c84429d66513d0a3a54 (MD5) Previous issue date: 2011-04-19 / Building software involves a process composed of activities and methods. Even following these activities and using the proposed methods the resultant product may have some deviation with respect to its functional and nonfunctional requirements, not corresponding to the expected features. To minimize such problems, the test activity aims to ensure both the construction of the correct product and its correct construction. Since testing is considered a costly activity, research are conducted aiming at to make it feasible. This work ts in this context, in order improve the selection of test cases, thus increasing the quality of software products and the performance of testing guideline. It is interesting to note that, testing guideline is a fundamental artifact of the testing process and consists of test cases that, by de nition, execute a particular functionality of the program or check the suitability of the product over its speci ed requirements. Since the quality of the selected test cases have a great impact on the quality of the nal product, this work introduces the Extended Systematic Functional Test (ESFT) as a way to systematize the development and selection of test cases based on functional testing. A web system and a testing guideline used in certi cation were assessed using the ESFT in order to demonstrate the applicability and possible contributions of its use in terms of defect detection. The results are promising since the systematization, increases the number of selected test data, improves the detection of defects, and allow to justify why a particular test data is selected based on functional criteria. / A construção de um software envolve um processo composto de atividades e métodos. Mesmo seguindo tais atividades e utilizando os métodos propostos, um produto infiel aos requisitos funcionais e não funcionais pode ser gerado, não correspondendo as funcionalidades esperadas. Para amenizar tais problemas, a atividade de teste visa a assegurar tanto a construção do produto correto quanto a sua correta construção. Por ser uma atividade considerada onerosa, pesquisas para reduzir os custos da aplicação dos testes são realizadas. Este trabalho se enquadra nesse contexto, objetivando melhorar a seleção de casos de testes, aumentando assim, a qualidade de produtos de software e o desempenho de roteiros de teste. E interessante ressaltar que, roteiro de teste e um artefato fundamental do processo de testes e e constituído por casos de testes que, por definição, executam uma funcionalidade particular do programa ou verificam a adequação do produto em relação aos requisitos especificados. Uma vez que a qualidade dos casos de testes selecionados impacta fortemente na qualidade do produto final, este trabalho apresenta o Teste Funcional Sistemático Estendido(TFSE) como forma de sistematizar a elaboração e seleção de casos de testes, adotando critérios da técnica de teste funcional para essa finalidade. Um sistema web e um roteiro de teste utilizado em certificações foram avaliados utilizando o TFSE visando a demonstrar a aplicabilidade do mesmo e as possíveis contribuições de sua utilização em termos de detecção de defeitos. Os resultados obtidos são promissores uma vez que a sistematização, aumenta o numero de dados de teste selecionados, melhora a capacidade de detecção dos defeitos, e permitir justificar o por quê da seleção de determinado dado de teste com base em critérios funcionais.

Functional Test of any given system is used to verify that the top level system is performing according to the specifications and all of the sub systems, i.e., hardware, software, inputs, outputs and sensors are operating properly. The term System is used here in context of any device or equipment consisting of hardware, software, sensors, virtual sensors and inputs / outputs. One of the examples of such a system is a semiconductor fabrication equipment. There have only been a few approaches that are used to perform the functional test of a system. Engineers typically develop custom test equipment to interface with the system under test and determine proper functioning of all the sub systems and behavior of overall system. In another method, domain experts, utilize the software of the system under test, and manually actuate / stimulate sub systems and then observe and record outcomes to determine whether the system exhibited correct behavior. A novel solution of a reusable functional test automation framework is developed. The framework interfaces with the system under test via the exposed API, and allow domain experts with minimal or no programming background to create test suites to methodically test overall functionality of the system. / text

Darbo tikslas: įvertinti pacientų su lėtiniu juosmens skausmu, turinčių segmentinį nestabilumą, judėjimo sistemos funkcinę būklę. Pasirinktam darbo tikslui įgyvendinti buvo iškelti šie uždaviniai: 1. Įvertinti tiriamosios ir kontrolinės grupių asmenų juosmens aktyvių judesių amplitudę 2. Įvertinti tiriamosios ir kontrolinės grupių asmenų statinę liemens (pilvo ir nugaros) raumenų jėgos ištvermę. 3. Įvertinti tiriamosios ir kontrolinės grupių asmenų funkcinių judesių atlikties pajėgumą. 4. Įvertinti tiriamosios ir kontrolinės grupių asmenų skausmo kiekybines charakteristikas. Tyrimo metodai. Kontrolinę grupę sudarė 18 pacientų besiskundžiančių juosmens skausmu be stuburo segmentinio nestabilumo požymių. Tiriamąją grupę sudarė 12 pacientų, besiskundžiančių juosmens skausmu ir turinčių stuburo segmentinio nestabilumo požymių. Tyrimo metu pacientams buvo vertinama: skausmo intensyvumas naudojat skaičių analogijos skausmo skalę (SAS), funkcinis apatinės nugaros dalies pajėgumas (Roland – Morris klausimynas), judesio baimės (kinezifobijos) įvertinimo klausimynas (TAMPA), funkciniai judesių atlikties testai, juosmens aktyvių judesių amplitudė, statinė liemens raumenų jėgos ištvermė, stuburo segmentinio nestabilumo įvertinimo testas. Išvados: 1. Tiriamosios ir kontrolinės grupių asmenų juosmens aktyvių judesių amplitudė lenkiantis, tiesiantis, atliekant šoninį lenkimą į kairę statistiškai reikšmingai nesiskyrė (p>0,05), o kontrolinės grupės šoninio lenkimo į dešinę judesių... [toliau žr. visą tekstą] / Purpose of the scientific papper: to evaluate patients with chronical low back pain and segmental instability funcional state. To achieve the goal several tasks were raised: 1. To evaluate the active trunk range of motion of participants (controled group and researche group). 2. To evaluate the endurance of muscle’s static strength of the trunk (back and abdominal) of the controled group and the researche group. 3. To evaluate the ability of a personal functional movement of the controled group and the researche group. 4. To evaluate the quantitative pain characteristics of participants (controled group and researche group). Methods of the research. The control goup was made of eighteen patients complaining of a trunk pain without any spinal segmental instability sings. The researche group was made of twelve patients complaining of a trunk pain with spinal segmental instability sings. During the research patients were evaluated on: intensivity of pain using the numerical analogy pain scale (SAS), functional ability of low back (Roland-Morris questionnaire), fear of movement (kineziophobia) evaluation questionnaire (TAMPA), test of a functional movement ability, active range of motion of the trunk, endurance of static muscles strength of the trunk, prone instability test. Conclusions: 1. Difference between the controled group and the researche group active range of motion while bending, straightening, making the lateral flexion movement to the left was not statisticaly... [to full text]

La part dû au test dans le coût de conception et de fabrication des circuits intégrés ne cesse de croître, d'où la nécessité d'optimiser cette étape devenue incontournable. Dans cette thèse, de nouvelles méthodes d'ordonnancement et de réduction du nombre de tests à effectuer sont proposées. La solution est un ordre des tests permettant de détecter au plus tôt les circuits défectueux, qui pourra aussi être utilisé pour éliminer les tests redondants. Ces méthodes de test sont basées sur la modélisation statistique du circuit sous test. Cette modélisation inclus plusieurs modèles paramétriques et non paramétrique permettant de s'adapté à tous les types de circuit. Une fois le modèle validé, les méthodes de test proposées génèrent un grand échantillon contenant des circuits défectueux. Ces derniers permettent une meilleure estimation des métriques de test, en particulier le taux de défauts. Sur la base de cette erreur, un ordonnancement des tests est construit en maximisant la détection des circuits défectueux au plus tôt. Avec peu de tests, la méthode de sélection et d'évaluation est utilisée pour obtenir l'ordre optimal des tests. Toutefois, avec des circuits contenant un grand nombre de tests, des heuristiques comme la méthode de décomposition, les algorithmes génétiques ou les méthodes de la recherche flottante sont utilisées pour approcher la solution optimale. / The share of test in the cost of design and manufacture of integrated circuits continues to grow, hence the need to optimize this step. In this thesis, new methods of test scheduling and reducing the number of tests are proposed. The solution is a sequence of tests for early identification of faulty circuits, which can also be used to eliminate redundant tests. These test methods are based on statistical modeling of the circuit under test. This model included several parametric and non-parametric models to adapt to all types of circuit. Once the model is validated, the suggested test methods generate a large sample containing defective circuits. These allow a better estimation of test metrics, particularly the defect level. Based on this error, a test scheduling is constructed by maximizing the detection of faulty circuits. With few tests, the Branch and Bound method is used to obtain the optimal order of tests. However, with circuits containing a large number of tests, heuristics such as decomposition method, genetic algorithms or floating search methods are used to approach the optimal solution.

Un important dispositif de détection de QTL caprin laitier basé sur 2 254 chèvres génotypées sur puce SNP 50K et issues de 20 mâles d'IA séquencés a été mis en place. Des QTL avaient déjà été détectés pour de nombreux caractères laitiers ou de morphologie. Un certain nombre de caractères restait néanmoins à étudier ou à approfondir. Dans un premier temps, une analyse de type GWAS a été réalisée sur cinq caractères. Pour deux d'entre eux, les trayons surnuméraires et le débit de traite, nos résultats sont en faveur d'un déterminisme polygénique. Pour deux phénotypes de coloration indésirables en race Saanen et la présence de pampilles, une région du génome a été trouvée comme très significativement associée au phénotype (chromosomes 11, 13 et 10 respectivement). Le gène ASIP est un candidat fonctionnel et positionnel très prometteur pour le QTL du chromosome 13 qui agit sur la coloration rose des animaux Saanen. En revanche, malgré une analyse plus poussée des deux autres zones via l'analyse de séquences et des génotypages, aucune mutation causale candidate n'a pu être identifiée. Enfin, nous avons étudié deux mutations associées à des différences de taux butyreux qui avaient été précédemment identifiées dans le gène DGAT1 caprin. Après avoir produit in vitro les différentes versions de la protéine en système " baculovirus/cellules de lépidoptère ", l'activité enzymatique des différents variants a été testée sur le diglycéride DAG 10 :10. Nos résultats confirment l'effet délétère des mutations sur la production de triglycérides et signent ainsi la causalité de ces mutations. Ces travaux ont permis de mettre en évidence de nouvelles régions du génome impliquées dans le contrôle de caractères d'intérêt pour la filière et ont prouvé la causalité de deux mutations. L'ensemble de ces résultats pourra aider la filière à mieux gérer ces phénotypes dans le schéma. / A large daughter design based on 2 254 genotyped dairy goats genotyped on a 50K SNP chip and their 20 sequenced fathers was carried out for mapping traits of interest in French dairy goats and QTL have been detected for some dairy and morphologic traits. However, in-depth studies were needed and some unstudied traits remained. A GWAS analysis was performed on five different traits. For two of them: supernumerary teats and milk flow, results showed a polygenic determinism. For the three others: two undesired coat color in the Saanen breed and the presence of wattles, a genome region was very significantly associated with each of these phenotypes (chromosomes 11, 13 and 10 respectively). The ASIP gene is a strong functional and positional candidate for the QTL on chromosome 13 for the pink coat trait. Despite in-depth analyses for the two other regions using sequences data and genotyping, no candidate causal mutation has been identified. Finally, two mutations previously identified in the DGAT1 gene and statistically associated with differences of milk fat content have been investigated. After in vitro production of the different version of the protein by a baculovius system, the enzymatic activity was assessed on diglyceride DAG 10:10. The results attest the deleterious effect of these mutations on triglyceride production and prove the causality of the mutations. This work lead to the identification of new genome regions associated with traits of interest and will be useful for the breeding organization.

La reconstruction chirurgicale est le traitement préconisé après rupture du Ligament Croisé Antérieur (LCA) chez les patients sportifs. Cette opération est suivie d'une longue période de rééducation et les résultats en termes de reprise du sport et de récidive ne sont pas totalement satisfaisants. Ainsi ce travail s'articule autour de deux objectifs : l'amélioration de la récupération après lésion du LCA et la prévention des primo-ruptures. Dans un premier temps, nous avons évalué les altérations cinématiques et dynamiques présentes chez les patients, lors d'un mouvement de saut, 7 mois après reconstruction du LCA. Les études conduites mettent en évidence des performances plus faibles et des asymétries plus importantes chez les patients, notamment pour le travail mécanique articulaire total. La jambe opérée présente des déficits au niveau du genou, de la hanche et de la cheville sur des paramètres tels que les amplitudes articulaires, les moments et puissances articulaires. Des altérations ont également été retrouvées sur la jambe non-opérée. Elles se traduisent par une modification des angles de la cheville, du genou, et un plus faible moment articulaire total. Dans un deuxième temps, nous nous sommes intéressés aux possibilités de prévention des ruptures du LCA chez les athlètes féminines. Nos résultats démontrent qu'il est possible de détecter et de diminuer les facteurs de risque neuromusculaires, dont le « valgus dynamique », tout en augmentant la performance de saut chez de jeunes basketteuses. En conclusion, l'amélioration des résultats après lésion du LCA requiert, dans le protocole de rééducation et le suivi des patients, une attention particulière à la qualité d'exécution des mouvements pluriarticulaires, sur chacun des deux membres inférieurs. En parallèle, la détection et la prise en charge des facteurs de risque neuromusculaires devraient être systématisées dans les pratiques ou les publics à risque afin de prévenir les ruptures du LCA / Surgical reconstruction is the common treatment after Anterior Cruciate Ligament (ACL) injury in athletes. It usually requires a long period of rehabilitation and the results in terms of return to sport and re-injury rates are not fully satisfactory. The present work has two aims: the enhancement of recovery after ACL tear and the prevention of initial injury. Firstly, we assessed the kinematic and kinetic alterations during a jump task in patients 7 months after ACL reconstruction. Our findings highlight both a lower jumping performance, and greater asymmetries in patients, particularly considering the total joint mechanical work. The operated leg presents deficits at the knee, hip and ankle joints on parameters such as joint range of motion, joint moments and powers. In addition, changes are also found on the non-operated leg, characterized by a modification of the knee and ankle joint angles, and by a lower total joint moment. Secondly, we focused on ACL injury prevention in female athletes. We determinate a way to detect and reduce the neuromuscular risk factors, including “dynamic valgus”, while increasing jumping performance in young basketball female players. In conclusion, maximizing the recovery after ACL tear requires, in the rehabilitation protocol and the patients follow-up, a particular emphasis on the quality of execution of multi-joint task, on each of both lower limbs. Moreover, the detection and management of the neuromuscular risk factors should be systematized in sports or public at risk in order to prevent ACL injury