Tesis sobre el tema "Clonal and genetic diversity"
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Weidow, Elliot D. "Genetic Diversity in an Invasive Clonal Plant? A Historical and Contemporary Perspective". ScholarWorks@UNO, 2018. https://scholarworks.uno.edu/td/2522.
Texto completoBullock, James Michael. "The maintenance of genotypic diversity in a clonal plant". Thesis, University of Liverpool, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.279711.
Texto completoMcClintock, Katherine. "Genetic variability, clonal diversity and taxonomic comparisons of Carex lasiocarpa Ehrh. and Carex lanuginosa Michx. (Cyperaceae)". Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=61192.
Texto completoMetzger, Genevieve. "CLONALITY AND GENETIC DIVERSITY IN POLYGONELLA MYRIOPHYLLA, A LAKE WALES RIDGE ENDEMIC PLANT". Master's thesis, University of Central Florida, 2010. http://digital.library.ucf.edu/cdm/ref/collection/ETD/id/2103.
Texto completoM.S.
Department of Biology
Sciences
Biology MS
Stokes, Richard L. "Pollination Ecology, Self-incompatibility and Genetic Diversity in the Herbaceous Eastern North American Spring Ephemeral, Erythronium americanum". University of Cincinnati / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1353089025.
Texto completoSolé, Magali. "Factors affecting the genotypic and genetic diversity of the dioecious clonal plant Cirsium arvense at the metapopulation level". [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=971596697.
Texto completoMaciel, Kelly de Jesus Silva. "Análise da diversidade e divergência genética em clones de Eucalyptus spp. potencialmente importantes para Goiás". Universidade Federal de Goiás, 2014. http://repositorio.bc.ufg.br/tede/handle/tede/6247.
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Fundação de Amparo à Pesquisa do Estado de Goiás - FAPEG
The success of the Brazilian forestry is due largely to the excellent adaptability of the Eucalyptus genus to our climate and soil conditions. The recent expansion of eucalypts to the North and Midwest regions of Brazil presents challenges such as the need for clones adapted to drought, high temperatures and nutrient deficient soils of Cerrado. Three clonal trials were installed in different regions of Goiás State to evaluate the adaptability and growth of 113 elite clones of Eucalyptus spp. The objective of this study was to estimate the genetic diversity and divergence among 90 of the clones used in three clonal trials installed in different regions of Goiás State. The clones were genotyped with nine microsatellite loci organized into four "multiplex" systems for PCR. The amplified fragments were separated on the ABI–3100 platform (Applied Biosystems). The genotyping was performed using the GeneMapper software (Applied Biosystems). Genetic diversity parameters were estimated using the GDA and Fstat programs. The parameters number of alleles (A), expected heterozygosity (He), observed heterozygosity (Ho), intrapopulation fixation index (f) and allelic richness were estimated for each microsatellite locus. The results showed that all loci used in this study were highly polymorphic, with an average of 16.78 alleles per locus. The EMBRA28 and EMBRA3 loci showed the highest number of alleles (24 and 22). In general, for most markers, the observed heterozygosity had similar estimates when compared to the expected heterozigosity under Hardy-Weinberg Equilibrium. As a result, the fixation index (f) did not differ significantly from zero. Analyses of genetic structure of the clones was performed using the software Structure (version 2.3.4), with K values ranging from 1 to 10, with 10 interactions each. Results indicated presence of three distinct genetic groups (K = 3). However, there was no clear relationship between the populations obtained and the different species of Eucalyptus used in the study. This result can be explained by the clone sample is originated from breeding programs where crosses may have admixed populations, disrupting some genetic structures. Most importantly, the molecular analyses indicate extraordinary genetic diversity within the clonal trials installed in Goiás. This genetic diversity can be exploited for breeding new genetic material adapted to the Cerrado conditions.
O sucesso do setor florestal brasileiro deve-se em grande parte à excelente adaptabilidade do gênero Eucalyptus ao nosso clima e condições do solo. A recente expansão do eucalipto para as regiões norte e central do Brasil requer pesquisas para que os clones se adaptem à seca, elevadas temperaturas e escassez de nutrientes nos solos do Cerrado. O objetivo deste estudo foi estimar a diversidade e divergência genética entre 90 dos clones utilizados em uma rede de testes clonais no estado de Goiás. Os clones foram genotipados com nove locos microssatélites organizados em quatro sistemas “multiplex” para PCR. Os fragmentos amplificados foram separados na plataforma ABI-3100 (Applied Biosystems). A genotipagem foi realizada utilizando o programa GeneMapper (Applied Biosystems). Os parâmetros de diversidade genética foram estimados usando os programas GDA e Fstat. Os parâmetros número de alelos (A), heterozigosidade esperada (He), heterozigosidade observada (Ho), índice de fixação intrapopulacional (f) e riqueza alélica foram estimados para cada loco microssatélite. Os resultados mostraram que todos os locos utilizados neste estudo foram altamente polimórficos, com média de 16,78 alelos por loco. A genotipagem dos locos EMBRA28 e EMBRA3 mostrou o maior número de alelos (24 e 22). De maneira geral, para a maioria dos locos estudados, a heterozigosidade observada apresentou estimativas semelhantes à heterozigosidade esperada dentro das condições do Equilíbrio de Hardy-Weimberg. Como resultado, o índice de fixação (f) não diferiu significativamente de zero. A análise da estrutura genética dos clones foi realizada utilizando o programa Structure (versão 2.3.4), com valores de K variando de 1 a 10, com 10 iterações cada. Os resultados indicaram a presença de três grupos genéticos distintos (K = 3). Entretanto, não foi observada uma clara relação entre as populações obtidas e as diferentes espécies de Eucalyptus utilizadas no estudo. Esse resultado pode ser explicado pelo fato da amostra de clone ser originada de programas de melhoramento, onde os cruzamentos recombinam o material genético das populações, desfazendo algumas estruturas genéticas. De forma mais importante, as análises moleculares indicaram grande diversidade genética dentre os clones que estão sendo avaliados em Goiás. Esta diversidade genética pode ser explorada em um programa de melhoramento para obtenção de novos materiais genéticos adaptados às condições do Cerrado.
Starnes, John H. "CHARACTERIZATION AND DISTRIBUTION OF NOVEL NON-LTR RETROELEMENTS DRIVING HIGH TELOMERE RFLP DIVERSITY IN CLONAL LINES OF MAGNAPORTHE ORYZAE". UKnowledge, 2013. http://uknowledge.uky.edu/plantpath_etds/6.
Texto completo鳥丸, 猛. y Takeshi TORIMARU. "クローンを形成する雌雄異株低木ヒメモチにおけるクローン多様性と遺伝的変異". 名古屋大学農学部付属演習林, 2005. http://hdl.handle.net/2237/8623.
Texto completoGu, Hongcang. "GENETIC DIVERSITY AND SYMPTOM SEVERITY DETERMINANTS OF BEAN POD MOTTLE VIRUS". UKnowledge, 2004. http://uknowledge.uky.edu/gradschool_diss/441.
Texto completoMusa, Muawiya Abarshi. "Molecular diagnostics, genetic diversity and generating infectious clones for cassava brown streak viruses". Thesis, University of Greenwich, 2012. http://gala.gre.ac.uk/9092/.
Texto completoRosvall, Ola. "Enhancing gain from long-term forest tree breeding while conserving genetic diversity /". Umeå : Swedish Univ. of Agricultural Sciences (Sveriges lantbruksuniv.), 1999. http://epsilon.slu.se/avh/1999/91-576-5643-6.pdf.
Texto completoLundqvist, Elisabeth. "Genetics and ecology of natural populations". Doctoral thesis, Umeå universitet, Molekylärbiologi (Teknat- och Medfak), 2002. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-103815.
Texto completoDiss. (sammanfattning) Umeå : Umeå universitet, 2002, härtill 5 uppsatser.
digitalisering@umu
Rigonato, Janaina. "Diversidade de cianobactérias em manguezais do Estado de São Paulo". Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/11/11138/tde-17092010-183527/.
Texto completoMicroorganisms play important role in the recycling of elements in mangrove ecosystems, since as primary producers they can control chemical reactions. The particular cyanobacteria group act promoting the input of carbon and nitrogen through their ability to realize oxygenic photosynthesis and fixing atmospheric nitrogen. In Brazil, the mangrove forests occupy an area of approximately 25.000 km2, and in the total area of São Paulo State, 240 km2 are covered by this ecosystem. The aim of this work was to evaluate the cyanobacterial diversity that colonize Avicennia schaueriana, Rhizophora mangle and Laguncularia racemosa leaves from Cardoso Island mangrove, a pristine site, as well as to assess and compare the soil cyanobacterial population from both Cardoso Island and Bertioga mangroves, this last one contaminated with crude oil. For this purpose, the techniques of DGGE and clone library of 16S rRNA gene, ARISA, and TRFLP of nifH gene were used. The phyllosphere results evidenced a subtle difference of the genus of tree on the colonization of cyanobacteria, however a strong effect from trees location within the mangrove was observed. The tree leaves from the middle of mangrove area showed a greater diversity of cyanobacterial genera. In geral, 19 genera and several uncultivated cyanobacteria were identified. A predominance of sequences with high similarities to representatives of the order Nostocales and Oscillatoriales were observed. Sequences with similarities to the genus Symphyonemopsis (order Stigonematales) were recovered in higher quantity. Regarding to the soil diversity, DGGE and ARISA results showed that the cyanobacterial population is distinct among both mangroves studied, however the electrophoretic profiles from samples collected near to the sea grouped together, suggesting that colonization is influenced by flood conditions. The most different profile was obtained in the site near to the forest in Bertioga mangrove, location more affected by the oil contamination. Clone libraries clearly showed 16S rRNA sequences differences among sites sampled. A total of 99 OTUs were obtained, with 61 singletons. In the site near to the sea the Procholorococcus and Synechococcus genera were dominant in both mangroves. The majority of 16S rRNA sequences found in the other sites were related to uncultured cyanobacteria. Alpha diversity suggested that the site with lowest diversity was middle of the Bertioga mangrove, and the highest was Bertioga near to the forest, the remainder sites had similar values. The highest richness indices were found in the sites near to the forest, while lower values were observed in the sites near to the sea. The majority of the 16S rRNA sequences obtained from the middle of the mangrove and near to the forest in Bertioga showed identities lower than 90% with that available in the GenBank. These sequences may represent novel cyanobacterial taxa or known cyanobacteria not yet sequenced. The TRFLP of nifH gene indicated that the sites near to the sea and middle of the Cardoso Island mangrove harbored similar diazotrophic populations, while in Bertioga these sites presented differences in TRFLP profiles. The greatest differences were in the sites near to the forest in both mangroves.
Mitchell, Suzanne Elizabeth. "Clonal diversity and coexistence in Daphnia magna populations". Thesis, University of Hull, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.389469.
Texto completoMirza, Intisar Hussain. "Clonal diversity of the immune response of insulin". Thesis, University of Southampton, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.253776.
Texto completoVardo-Zalik, Anne. "Clonal Diversity of the Malaria Parasite Plasmodium Mexicanum: Diversity Over Time and Space, and Effects on the Parasite’s Transmission, Infection Dynamics and Virulence". ScholarWorks @ UVM, 2008. http://scholarworks.uvm.edu/graddis/234.
Texto completoTsujimoto, Michiaki. "Clonal population structure and genetic variation of ramet-production traits in a clonal plant, Cardamine leucantha". Kyoto University, 2020. http://hdl.handle.net/2433/253122.
Texto completoCrona, Joakim. "Charting the Genetic Landscape and Clonal Architectures of Pheochromocytoma". Doctoral thesis, Uppsala universitet, Institutionen för kirurgiska vetenskaper, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-234285.
Texto completoBumgarner, Stacie L. "Mechanisms underlying cell-to-cell diversity in clonal populations of yeast". Thesis, Massachusetts Institute of Technology, 2008. http://hdl.handle.net/1721.1/45150.
Texto completoThis electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.
Includes bibliographical references.
The FLO promoters are among the largest promoters in yeast and receive a complex combination of signals from upstream signaling pathways through their association with downstream DNA binding factors and chromatin remodelers. The genes regulated by these promoters encode cell-surface glycoproteins that mediate a range of cell-to-cell and cell-to-surface adhesions. Phenotypic diversity in clonal populations of yeast cells is mediated in part by epigenetic silencing of the FLO10 and FLO11 promoters. Silencing of the FLO promoters is heterogeneous, or variegated, within a clonal population of cells. The variegated transcription of FLO10 and FLO11 results in a population of yeast cells that exhibits cell-to-cell variability in flocculation, adhesion to and invasion of inert surfaces, and filamentous growth. In this thesis, I discuss chromatin modifying proteins that localize to the FLO10 and FLO11 promoters and act in trans to affect transcription and silencing at these promoters. I describe the results of genome-wide screens to identify additional trans-acting chromatin modifying factors that play roles in the transcriptional regulation and silencing of the FLO10 and FLO11 promoters. Some of the candidates identified in these screens had effects on FLO transcription that initially seemed paradoxical in light of contemporary theories regarding the role of chromatin structure in regulating transcription. Given that histone deacetylases generally repress transcriptional activity, we were particularly surprised to find that mutations in components of the Rpd3L histone deacetylase complex reduce FLO promoter activity, indicating that Rpd3L plays a role in transcriptional activation of FLO genes. Careful analysis of these mutants, their phenotypes, the transcription of FLO11, and most importantly, the noncoding transcripts that we have detected in the promoter region of FLO11, have revealed the basis for this apparent paradox.
by Stacie L. Bumgarner.
Ph.D.
Reina, Castillón Judith 1989. "Detectable clonal mosaicism : underlying mechanisms, clinical implications and genetic counselling". Doctoral thesis, Universitat Pompeu Fabra, 2017. http://hdl.handle.net/10803/666707.
Texto completoEl mosaicisme genètic somàtic pot està present en individus sans i en altres amb certes condicions com edat avançada o càncer. La seva detecció en sang per array d’SNPs pot ser utilitzada com a biomarcador de risc tumoral millorant el tractament i la supervivència dels pacients en un futur. Donat el risc de càncer incrementat en pacients amb anèmia de Fanconi (AF), hem avaluat la prevalença i l’evolució del mosaicisme en ells i la seva relació amb càncer i supervivència. També hem estudiat la disomia uniparental (DUP) en mosaic com a possible mecanisme de protecció en front el càncer hematològic. Finalment, hem explorat el coneixement sobre l’AF i l’adherència al seguiment en famílies AF. Els nostres resultats suggereixen la detecció de mosaicisme en sang com a sistema adequat i menys invasiu de detecció precoç de càncer en AF i proposa la DUP com a possible mecanisme de rescat protector en front el càncer hematològic. Dos rols oposats del mosaicisme envers el càncer esdevenen evidents considerant les nostres dades. El coneixement sobre l’AF i l’adherència al seguiment són satisfactoris en famílies AF gràcies a les accions dels assessors genètics.
Abdollahi, Nika. "B cell receptor repertoire analysis in clinical context : new approaches for clonal grouping, intra-clonal diversity studies, and repertoire visualization". Electronic Thesis or Diss., Sorbonne université, 2021. http://www.theses.fr/2021SORUS063.
Texto completoNext-generation sequencing has enabled researchers to conduct in-depth analyses of the immunological repertoire landscape. However, a significant concern in these studies is the computational cost of analyzing millions of sequences with inherent complexity, variability, and mutational capacity, imposing computational challenges and necessitating the development of efficient methods. This challenge is even more evident in the clinical context that does not necessarily have access to professionals with computing skills or robust computational resources. Thus, the main goal of this thesis is to develop a set of dedicated and integrated tools to be used in the clinical environment, for medical diagnostic and patient care, and in the research environment, to perform large-scale and in-depth repertoire analysis. We have designed and implemented multiple algorithms and gathered them in a user-friendly interactive BCR repertoire visualization pipeline to facilitate the process of integrating BCR repertoire analysis into medical practices
Quinton, Margaret. "Genetic diversity in selected populations". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0016/NQ47407.pdf.
Texto completoBarker, Gary L. A. "Genetic diversity in Emiliania huxleyi". Thesis, University of Bristol, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.294614.
Texto completoFitzcharles, Elaine M. "Genetic diversity of Antarctic fish". Thesis, University of St Andrews, 2015. http://hdl.handle.net/10023/6860.
Texto completoRynearson, Tatiana A. "Clonal diversity, population differentiation and bloom dynamics in the centric diatom, Ditylum brightwellii /". Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/10979.
Texto completoTan, Chia Lock. "Tissue culture and genetic transformation of Theobroma cacao". Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.310835.
Texto completoCornils, Kerstin, Lars Thielecke, Doreen Winkelmann, Tim Aranyossy, Mathias Lesche, Andreas Dahl, Ingo Roeder, Boris Fehse y Ingmar Glauche. "Clonal competition in BcrAbl-driven leukemia: how transplantations can accelerate clonal conversion". Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2017. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-230481.
Texto completoPaul, Richard E. L. "The genetic diversity of Plasmodium falciparum". Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318788.
Texto completoTownsend, S. J. "Genetic diversity and domestication in sheep". Thesis, University of East Anglia, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368146.
Texto completoWilliams, Louise Jane. "Recombinational mechanisms in human genetic diversity". Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342483.
Texto completoRogers, Emma Jayne. "Haplotype evolution and human genetic diversity". Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342507.
Texto completoRitz, Liliane R. "Genetic diversity in the tribe Bovini /". [S.l.] : [s.n.], 1997. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.
Texto completoSchmid, Marianne. "Genetic diversity in Swiss cattle breeds /". [S.l.] : [s.n.], 1998. http://www.stub.unibe.ch/html/haupt/datenbanken/diss/bestell.html.
Texto completoCutler, Jenny L. "Clonal diversity in populations of the seagrass thalassia testudinum in rabbit key basin, Florida bay". FIU Digital Commons, 1998. http://digitalcommons.fiu.edu/etd/2702.
Texto completoGardner, Michelle. "Genetic diversity of " brain genes" across worldwide". Doctoral thesis, Universitat Pompeu Fabra, 2007. http://hdl.handle.net/10803/7169.
Texto completoL'objectiu de l'estudi té dos vessants: per una banda l'anàlisi de la diversitat genètica en un conjunt de gens implicats en malaltia humana, en aquest cas en malaltia psiquiàtrica, en poblacions humanes mundials, amb la intenció d'assentar les bases per propers esforços de mapatge genètic; i per altra banda analitzar la diversitat genètica en aquest conjunt de gens per tal de descobrir evidències d'esdeveniments històrics, incloent possibles evidències de selecció.
The work presented in this thesis is a study of the genetic variation in a set of genes related to neurological function ('Brain genes'). Twenty two genes are examined, all of which are involved in either the Dopaminergic, Serotonergic or the Glutamatergic systems of neurotransmission.
The objective of the study has two aspects: on the one hand the analysis of genetic variation in a set of genes which are implicated in human disease, in this case psychiatric disease, across global human populations, towards the end of providing some new insight for gene mapping efforts, and on the other hand the study of genetic variation in this set of genes may reveal traces of the population history events undergone, including possible evidence for selection.
Wilkinson, Samantha. "Genetic diversity and structure of livestock breeds". Thesis, University of Edinburgh, 2012. http://hdl.handle.net/1842/6488.
Texto completoGustafson, Steven Matt. "An analysis of diversity in genetic programming". Thesis, University of Nottingham, 2004. http://eprints.nottingham.ac.uk/10057/.
Texto completoClarke, Stephen James. "Genetic diversity in nativeIrish oak and ash". Thesis, Queen's University Belfast, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397902.
Texto completoMauricio, Isabel Larguinho. "Genetic diversity in the Leishmania donovani complex". Thesis, London School of Hygiene and Tropical Medicine (University of London), 2000. http://researchonline.lshtm.ac.uk/682281/.
Texto completoSoto, Esteban. "Genetic and virulence diversity of Flavobacterium columnare". Master's thesis, Mississippi State : Mississippi State University, 2007. http://library.msstate.edu/etd/show.asp?etd=etd-05292007-091752.
Texto completoPalo, Jukka. "Genetic diversity and phylogeography of landlocked seals". Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/mat/ekolo/vk/palo/.
Texto completoCeccobelli, Simone. "Genetic diversity of mediterranean autochthonous chicken breeds". Doctoral thesis, Università degli studi di Padova, 2013. http://hdl.handle.net/11577/3422653.
Texto completoLe razze locali possono essere considerate parte della storia di molte popolazioni umane, così come materiale importante dal punto di vista scientifico. La catalogazione, la caratterizzazione e il controllo di routine della variabilità delle risorse genetiche animali sono pratiche fondamentali nelle strategie di miglioramento genetico e nei programmi di conservazione. La genetica molecolare ci fornisce importanti strumenti per analizzare la variabilità genetica tra e all’interno delle razze. Numerosi approcci sono stati sviluppati e utilizzati per comprendere i diversi aspetti che contribuiscono alla differenziazione delle razze. Questa tesi è costituita da tre contributi scientifici. L’obiettivo del primo (Capitolo 3) è stato quello di studiare la variabilità e analizzare la struttura di popolazione di due razze avicole Italiane (Ancona e Livorno), poiché possono essere considerate una fonte preziosa di variabilità genetica. Sono stati raccolti campioni di sangue da 131 animali e genotipati mediante l’utilizzo di un panel di 30 marcatori microsatelliti. Gli indici genetici calcolati suggeriscono un deficit di eterozigosità e un certo livello di consanguineità (eterozigosità media osservata = 0,46; eterozigosità media attesa = 0,53; FIS in Ancona e Livorno = 0,251 e 0,086). L’albero delle distance inter-individuali DAS, elaborato mediante l’algoritmo Neighbour-Jouning, e l’analisi FCA, hanno evidenziato una elevata variabilità interna in Livorno rispetto alla razza Ancona. L’analisi mediante il software STRUCTURE ha evidenziato l’unicità genetica delle due razze oggetto di studio e la presenza di subgruppi nella razza Ancona, derivanti da un possibile isolamento genetico. Nel quarto capitolo, è descritta la caratterizzazione genetica di cinque razze avicole italiane (Ancona, Livornese bianca, Modenese, Romagnola e Valdarnese Bianca), incluse le loro origini, la loro differenziazione e il loro attuale livello di variabilità genetica. Il primo obiettivo di tale studio è di indagare l’origine genetica di queste cinque razze di pollo italiane sulla base delle informazioni provenienti dal DNA mitocondriale (mtDNA). Il secondo obiettivo è stato quello di valutare la variabilità genetica, la struttura di popolazione e le loro relazioni genetiche mediante l’utilizzo di 27 marcatori molecolari microsatelliti. Al fine di raggiungere tali obiettivi, è stato sequenziato un frammento di 506 bp della regione D-loop del DNA mitocondriale di 50 animali delle cinque razze avicole oggetto di studio. Sono stati individuati diciotto siti di variabilità che hanno definito 12 aplotipi. Questi ultimi sono stati assegnati a tre aplogruppi, probabilmente attribuiti a due linee materne. I risultati hanno mostrato che il 90% degli aplotipi ricade nell’aplogruppo E, originario del subcontinente Indiano come descritto in precedenza da altri autori. Per l’analisi microsatellitare, 137 singoli campioni di sangue sono stati raccolti nelle cinque razze italiane oggetto di studio. Un totale di 147 alleli è stato rilevato in 27 marcatori microsatelliti. Le cinque razze Italiane hanno mostrato un livello di consanguineità leggermente superiore (FIS = 0,08) rispetto alle popolazioni commerciali utilizzate come razze di riferimento. L’analisi con il software STRUCTURE ha rilevato una chiara separazione delle cinque razze Italiane da queste popolazioni riferimento; una seconda analisi delle sole razze oggetto di studio ha permesso di discriminare le singole razze italiane. Scopo del terzo studio è stato quello di descrivere la variabilità genetica e le relazioni tra sedici popolazioni avicole allevate nel bacino del Mediterraneo, mediante il sequenziamento della regione D-loop del DNA mitocondriale e l’utilizzo di un panel di 27 marcatori molecolari microsatelliti (Capitolo 5). Un frammento di 506 bp del D-loop mitocondriale è stato sequenziato in 160 campioni di DNA. Sono stati osservati 25 siti di variabilità e 21 aplotipi che definiscono tre aplogruppi e probabilmente tre linee materne. Il principale aplotipo, individuato nelle popolazioni del Mediterraneo, è rappresentato dall’E1 derivante dal subcontinente Indiano. Altre sequenze sono incluse negli aplogruppi A e B, i quali originano dal sud della Cina e dal Giappone. Per l’analisi microsatellitare, sono stai racconti 465 campioni di sangue. I risultati indicano che circa il 22% della variabilità totale origina da variazioni che intercorrono tra le popolazioni oggetto di studio. L’analisi di STRUCTURE ha rilevato un’ampia mescolanza genetica in molte delle popolazioni studiate. In conclusione, adeguate misure di conservazione dovrebbero essere attuate al fine di minimizzare fenomeni di consanguineità e d’incrocio incontrollato nelle razze studiate. Particolare attenzione, pertanto, è richiesta al fine di conservare e salvaguardare queste razze potenzialmente vulnerabili.
SAITTA, CLAUDIA. "Predisposition to hematological malignancies in children and adults: from genetic profiling to clonal evolution". Doctoral thesis, Università degli Studi di Milano-Bicocca, 2022. http://hdl.handle.net/10281/365155.
Texto completoDespite genetic predisposition occurs in 5-10 % of pediatric cancer, it is still a nebulous field, that has to be better characterized. In the adult setting, clonal evolution acts similarly, and age-dependent accumulation of somatic mutations increases the prevalence of myeloid neoplasms among older individuals. How the specific co-occurrence of somatic events predisposes to hematological malignancies have to be further clarified. In the present project, we focused our attention in dissecting the role of genetic predisposition in both childhood and adult hematological malignancies, with the purpose of improving knowledge about genetic alterations that act in pre-leukemic phase. We planned and developed our study through several tasks, characterized by the joint purpose of investigating the contribution of genetic predisposition in promote tumor transformation. Firstly, we screened a cohort of 120 consecutive diagnosis of pediatric patients affected by Acute Lymphoblastic Leukemia and sporadic cases with other hematological malignancies, as well as cases with familiar recurrence. Genetic profiling confirmed the crucial role of some genes in Leukemogenesis, like those belonging to Ras pathway, both in term of incidence and pathogenicity. Moreover, it shed light on germline mutations in Cohesins: these alterations, usually associated to genetic syndromes called Cohesinopathies, are not random or sporadic events, but occur with a frequency (6%) that is not negligible and worthy of further study. Considering this evidence, we made a focus on STAG1 and RAD21 germline variants. Our results demonstrated that they lead to a poor chromosomal strength and promote spontaneous instability, resulting in a lowered response to exogenous and endogenous agents, as well as defective DNA repair mechanisms. So, genes that are not classically related to full-blown stage of hematological disease, promote cancer prone conditions in pediatric patients, aggravating the risk of somatic events that are responsible of the disease’ onset. In order to evaluate the contribution of genetic predisposition in cancer considering overall the time of life, we investigated the role of clonal evolution in the adult setting. Despite it is considered normal in aging, it is also significantly associated with cardiovascular disease, as well as solid tumors and hematological malignancies. The mutational screening of 1794 oldest-old individuals allowed to establish a model based on 3 risk groups, in which differential age-dependent accumulation of somatic mutations increases prevalence of myeloid malignancies or inflammatory-associated diseases. Specifically, mutations in Splicing genes, JAK2 or the presence of multiple mutations (DNMT3A, TET2, ASXL1 with additional genetic lesions), as well as variants with allele frequency ≥0.096, have a positive predictive value for myeloid neoplasms. Finally, we underlined the role of Splicing genes mutations not only as early events in pathogenesis, but also in a previous phase, as key players in determine the onset of myelodysplastic disease. Overall, a better knowledge and characterization of these alterations will have different impacts: it will improve the understanding of tumorigenesis, opening new scenarios regarding the contribution of genetic predisposition and clonal evolution to hematological malignancies. Moreover, it could have significative effects on both patients’ care and familial genetic counseling, enabling targeted surveillance strategies, and tailored therapeutical adjustments that include familiar screening in case of familiar donor in hematopoietic stem cell transplantation.
Moody, Jonathan. "Genetic diversity in the processing and transcriptomic diversity in the targeting of microRNAs". Thesis, University of Edinburgh, 2017. http://hdl.handle.net/1842/25409.
Texto completoGraham, Elaine Brigid. "Genetic diversity and crossing relationships of Lycopersicon chilense /". For electronic version search Digital dissertations database. Restricted to UC campuses. Access is free to UC campus dissertations, 2005. http://uclibs.org/PID/11984.
Texto completoLarsson, Pär. "The genetic composition and diversity of Francisella tularensis". Doctoral thesis, Umeå University, Clinical Microbiology, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1139.
Texto completoFrancisella tularensis is the causative agent of the debilitating, sometimes fatal zoonotic disease tularemia. To date, little information has been available on the genetic makeup of this pathogen, its evolution, and the genetic differences which characterize subspecific lineages. These are the main areas addressed in this thesis.
The work indicated a high degree of genetic conservation of F. tularensis, both on the sequence level as determined by sequencing and on the compositional level, determined by array-based comparative genomic hybridizations (aCGH). One striking finding was that subsp. mediasiatica was most similar to subsp. tularensis, despite their natural confinement to Central Asia and North America, respectively. All genetic Regions of Difference RD found by aCGH distinguishing lineages were had resulted from repeat-mediated excision of DNA. This was used to identify additional RDs. Such data along with a multiple locus sequence analysis suggested an evolutionary scenario for F. tularensis.
Based on genomic information, a novel typing scheme for F. tularensis was furthermore devised and evaluated. This method provided increased robustness compared to previously used methods for F. tularensis typing, while retaining a capacity for high resolution.
Finally, the genomic sequence of the highly virulent F. tularensis strain SCHU S4 was determined and analysed. Evidenced by numerous pseudogenes and disrupted metabolic pathways, the bacterium appears to be undergoing a genome reduction process whereby a large proportion of the genetic capacity gradually is lost. It is likely that F. tularensis has irreversibly has evolved into an obligate host-dependent bacterium, incapable of a free-living existence. Unexpectedly, the bacterium was found to be devoid of common virulence mechanisms such as classic toxins, or type III and IV secretion systems. Instead, the virulence of this bacterium is probably largely the result of specific and unusual mechanisms.
Uimaniemi, L. (Leena). "Maintenance of genetic diversity in four taiga specialists". Doctoral thesis, University of Oulu, 2004. http://urn.fi/urn:isbn:9514274105.
Texto completoLarsson, Pär. "The genetic composition and diversity of Francisella tularensis /". Umeå : Umeå universitet, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1139.
Texto completoIsmail, Mohamed. "Molecular genetic diversity among natural populations of Populus". Thesis, University of British Columbia, 2010. http://hdl.handle.net/2429/26273.
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