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In most societies, surnames are passed down from fathers to sons, just like the Y chromosome. It follows that, theoretically, men sharing the same surnames would also be expected to share related Y chromosomes. Previous investigations have explored such relationships but most data has been collected so far only from the British Isles. In order to provide additional in sights into the con-elation between surnames and Y chromosomes, this study focuses on the Spanish population and investigates Y chromosome SNP/STR variation by analysing a total of 1,766 DNA samples from unrelated Spanish male volunteers belonging to 37 surnames and 355 controls. The results suggest that the degree of coancestry within surnames is highly dependent on surname frequency. Within-surname genetic variation, as measured by different statistics, con-elates well with surname frequency, though a few exceptions are found. In addition, geographic distance between the individuals' place of origin influences Significantly the con-elation between Y chromosome and surnames: men with the same surname tend to have more similar Y chromosomes if their paternal grandfathers were born geographically close to each other. Therefore, it seems that Y chromosome coancestry within surnames is as much about surname frequency as it is about geographical proximity.

Les insectes forestiers évoluent dans des écosystèmes particuliers caractérisés par leur longévité et leurs dimensions spatiales. Certains insectes forestiers, en particulier les défoliateurs, montrent des patterns de pullulations cycliques, parfois associés à un développement spatial précis. Zeiraphera diniana présente deux caractéristiques intéressantes (1) une temporelle et (2) une spatiale : (1) une très forte régularité dans la périodicité de ses pullulations observée depuis plus d’un millénaire. Les densités de population fluctuant drastiquement tous les 8 à 10 ans dans les Alpes, provoquant des défoliations impressionnantes sur de grandes surfaces forestières (2) le développement spatial du pic de pullulation suit un pattern de “traveling waves” avec une initiation toujours située dans une région Française appelée Briançonnais. En tant que première étude sur la génétique des populations de la tordeuse du mélèze à l’échelle de son aire de pullulation, cette thèse donne des éléments descriptifs sur les caractéristiques génétiques spatiales, avec une vision phylogéographique et historique. De plus, cette étude propose un regard sur la dynamique des populations complexe de cet insecte, en testant les prédictions génétiques correspondent aux modèles et hypothèses de dynamique existants. / Forest insects evolve in particular ecosystems characterized by their longevity and their spatial dimensions. Some populations of forest insects, in particular defoliators, exhibit a pattern of cyclic outbreaks that can be associated with particular spatial development. Zeiraphera diniana exhibits two interesting characteristics, a (1) temporal one and a (2) spatial one : (1) really high regularity in outbreak periodicity observed for more than a thousand years. Population densities fluctuate dramatically with outbreaks every 8 to 10 years in the Alps, causing spectacular defoliation of large stands of larch forests (2) the outbreak spatial development follows a travelling wave pattern always initiated from an area located in a French area called Briançonnais. As the first study on population genetics of the larch budmoth all over its outbreak range, this PhD gives descriptive elements on the spatial genetic characteristics of the insect, with an insight in its phylogeography and past history. This study furthermore gives a spatio-temporal insight in the complex population dynamics observed, by testing genetic predictions corresponding to existing population dynamics models and hypotheses.

A thesis submitted to the Faculty of Science, University of the Witwatersrand, Johannesburg, in fulfilment of the requirements for the degree of Doctor of Philosophy. Johannesburg, 2015. / Surface enhanced Raman spectroscopy (SERS) has emerged as a surface sensitive vibrational technique that leads to the enhancement of the Raman scattering molecules on or close to the surface of a plasmonic nanostructure. The enhancement is found to be in orders of 104 to 1015, which allows the technique to be sensitive enough to detect a single molecule. In this study, we report on the synthesis of different sizes of gold and silver nanoparticles (AuNPs and AgNPs) and gold nanorods (AuNRs). These are functionalized or co-stabilized with different stoichiometric ratios of HS-(CH2)11-PEG-COOH and alkanethiols (Raman reporters), i.e.; HS-(CH2)11-NHCO-coumarin(C), HS-(CH2)11-triphenylimidazole (TPI), HS- (CH2)11-indole (HSI), HS-(CH2)11-hydroquinone (HQ) to form mixed monolayer protected clusters (MMPCs). The alkanethiols were chosen as Raman reporters to facilitate the selfassembled formation of monolayers on the metal surface, thus resulting in stable MMPCs. The optical properties and stability of MMPCs were obtained using ultraviolet-visible (UVvis) spectrophometry and a zeta sizer. Size and shape of the as-synthesized nanoparticles were obtained using transmission electron microscopy (TEM). The tendency of thiolcapped nanoparticles to form self-assembled ordered superlattices was observed. Their Raman activities were evaluated using Raman spectroscopy, with the enhancement factor (EF) being calculated from the intensities of symmetric stretch vibrations of C-H observed in the region of about 2900 to 3000 cm-1 in all SERS spectra. In all four different alkanethiols (Raman reporters), smaller size metal nanoparticles (14 nm for AuNPs and 16 nm AgNPs) showed higher EF compared to 30 and 40 nm metal nanoparticles. The EF was observed to increase proportionally with stoichiometric ratios of alkanethiols from 1% iv | P a g e to 50%. The prepared MMPCs with small sizes were used as a SERS probe for the detection of malaria and tuberculosis biomarkers.

Citocinas são pequenas moléculas de sinalização celular que desempenham um papel muito importante no sistema imunológico e atuam na comunicação intracelular. Escolheu-se cinco genes pertencentes a essa família com o objetivo de se estudar SNPs que possam estar associados com a resistência à verminose gastrintestinal em caprinos. São eles: IL2, IL4, IL13, IFNg e TNFa. Para isso foi estudada uma população de 229 caprinos. Estes animais foram produzidos na Embrapa Caprinos e Ovinos (Sobral, CE) a partir de animais das Raças Saanen, raça considerada susceptível a endoparasitas gastrintestinais e Anglo-nubiana, raça considerada resistente aos mesmos endoparasitas. Após dois cruzamentos a terceira geração de animais, considerada F2, possuía 229 animais. Foram coletadas amostras de sangue para posteriores etapas de extração de DNA e quantificação; foram coletadas também amostras de fezes para contagem de ovos por grama de fezes (OPG). Os dados foram transformados em log10(n+1), onde n é número de ovos por grama de fezes, e analisados usando o procedimento dos modelos mistos do SAS (2002/2003). Os efeitos fixos incluídos no modelo foram sexo, coleta e idade a coleta e a variável animal foi utilizada como efeito aleatório. Com base no resultado dessa análise escolheu-se 44 animais com fenótipos extremos para resistência. Visando a prospecção de SNPs foram sequenciadas duas regiões do gene IL2, uma região do gene IL4, duas regiões do gene IL13, três regiões do gene IFNg e quatro regiões do gene TNFa. Foram encontrados dois SNPs no gene IL2 (intron 1 e intron 2), um SNP no gene IL4 (intron 3), um SNP no gene IL13 (intron 1), seis SNPs no gene IFNg (dois no exon 1, um no intron 1, um no intron 2, um no exon 3 e um no exon 4) e dez SNPs no gene TNFa (dois deles na região promotora do gene, dois no intron 2 e seis no exon 4). Verificou-se que há alteração de aminoácido na sequência de apenas um dos SNPs encontrados em regiões codificadoras de proteínas. A troca ocorre no segundo SNP localizado no exon 1 do gene IFNg (A/C), onde há alteração do aminoácido asparagina (considerando o alelo A) para treonina (alelo C). O estudo da associação entre as amostras extremos para resistência e os marcadores tipo SNP foi realizado com o teste de Fisher e observou-se que, dentre os vinte SNPs encontrados, oito deles apresentaram um valor de P ≤0,05, o que indica que os SNPs são potenciais marcadores moleculadores para resistência à verminose gastrintestinal, ou seja, provavelmente associados ao fenótipo estudado. Para essa associação ser validada é necessário estudar o efeito desses SNPs na população completa e em outras populações. / The cytokines are small cell-signaling proteins that play important role in immunologic system acting in intracellular communication. Five genes from cytokine family, i.e., IL2, IL4, IL13, IFNg, and TNFa were selected to search for SNPs, which may be associated with goat gastrointestinal endoparasites resistance. A population of 229 goats was produced in Embrapa Caprinos (Sobral, CE, Brazil). This population was an F2 offspring from a F1 intercross, which was in turn produced by crossing Saanen pure breed considered to be susceptible to gastrointestinal endoparasites with Anglo-nubiana pure breed considered to be resistant. Blood samples were collected for DNA extraction and fecal samples were collected for parasite egg counting. The data were transformed in log10(n+1), where n is the number of eggs per gram of feces, and analyzed by using the mixed model procedure of SAS (2002/2003). The fixed effects included were sex, sampling and age at sampling. The animal variable was used as random effect. After data analyses, forty four phenotypic extremes for endoparasite resistance were selected. Two regions of the gene IL2, one region of each gene IL4 and IL13, three regions of IFNg, and four regions of TNFa were sequenced in the search for SNPs. Two SNPs were found in the gene IL2 (intron 1 and intron 2), one SNP was found in IL4 (intron 3) one SNP in IL13 (intron 1) six SNPs in IFNg (two in the exon 1, one in the intron 1, one in the intron 2, one in the exon 3, and one in the exon 4) and ten SNPs were found in the gene TNFa (two in the promoter region, two in the intron 2 and six in the exon 4). Among all the SNPs found within exons only the second SNP of the IFNg exon 1 changes the amino acid. This SNP replaces an asparagine (allele A) by a threonin (allele C). The association study between the extremes and SNPs was performed using the Fisher exact test. A number of eight of the twenty described SNPs presented significant P value (P ≤0.05) indicating association with gastrointestinal endoparasite resistance and thus, the potential applicability as molecular markers for genetic improvement efforts involving this disease. To validate the associations, however, is necessary to study the effect of SNPs in a great number of animals and also in a variety of breeds.