Дисертації з теми "Identificazione genetica"
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Sorcaburu, Cigliero Solange. "Identificazione di linee guida per l'analisi genetico-forense mediante utilizzo di DNA degradati in vitro." Doctoral thesis, Università degli studi di Trieste, 2015. http://hdl.handle.net/10077/10857.
Повний текст джерелаNel corso di questo lavoro e stato ottimizzato un metodo per ottenere –mediante idrolisi acquosa- campioni di DNA danneggiati in maniera controllata (r2= 0.997). Uno di questi campioni, denominato trial sample (TS), veniva sottoposto ad un esperimento interlaboratorio (n=25) nel corso del quale ogni partecipante doveva fornire dati relativi alla quantificazione del campione ed al suo l’assetto genotipico. L’impiego della qPCR ha dimostrato che, in campioni danneggiati, e possibile fornire solo una indicazione che e relativa (ed inversamente proporzionale) alla lunghezza (r2=0.891) della regione target. Circa i genotipi forniti, veniva osservato che, a causa di un’elevata frequenza di artefatti di PCR, l’esecuzione di un basso numero di tre repliche(≤ 3)puo portare ad errori(n=4. Lo sviluppo del metodo “consensus TSPV", invece,eliminava tali errori di genotipizzazione. L’utilizzo di tale metodo di “consensus” ha dimostrato che, per campioni degradati ed in condizione di Low Copy Number (≤ 96 pg/PCR), neanche l’esecuzione di sette repliche mette totalmente al riparo da errori di genotipizzazioni.Anche la tecnologia Illumina di Next Generation Sequencing e stata testata mediante un set di campioni danneggiati. Pure la fedeltà di questa tecnologia e stata molto influenzata dalla qualità del templato. Il“consensus TSPV”, inoltre, evidenziava che errori di genotipizzazione possono emergere quando vengono eseguite due sole repliche. Il maggiore limite dell’analisi forense sembra derivare proprio dall’elevatissima sensibilità analitica oggi ottenibile.
In the course of this work has been optimized a method to obtain -by hydrolysis in water- damaged DNA samples in a controlled manner (r2=0.997). One of these samples, called trial sample (TS), was subjected to an inter-laboratory experiment (n=25)during which each participant had to provide data on the quantification of the sample and its trim genotype. The use of the qPCR showed that, in damaged samples, it is possible to provide only an indication that is relative (and inversely proportional) to the length (r2=0891)of the target region. About the genotypes provided, was observed that, due to a high frequency of PCR artifacts, the execution of a low number of three replicates (≤3)may lead to errors (n=4). Method development "consensus TSPV", instead, eliminated these errors genotyping. The use of this method "consensus" has shown that, for degraded samples and under Low Copy Number conditions (≤96pg/PCR),even the execution of seven replicas puts totally immune from errors in genotyping. Even Illumina technology of Next Generation Sequencing was tested using a set of damaged samples. Even the fidelity of this technology has been very influenced by the quality of the template. The "consensus TSPV" also showed that genotyping errors can arise when running only two replicas. The major limitation of the forensic analysis seems to derive just by the very high analytical sensitivity obtainable today.
XXVII Ciclo
1973
Minopoli, Fiorella <1977>. "Analisi di “Copy Number Variants” ed identificazione di nuovi geni candidati per l’Autismo e Ritardo Mentale." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4838/1/Minopoli_Fiorella_Tesi.pdf.
Повний текст джерелаAutism spectrum disorders (ASD) and intellectual disability (ID) are characterized by a complex and heterogeneous genetic etiology. Recent developments in genomic research have enabled the discovery of numerous copy number variants (CNVs) in the pathogenesis of these disorders, although their etiology remains unknown in the majority of cases. This work concerns the identification and characterization of specific CNVs in families with ASD and ID. I studied a microdeletion in 7q31 encompassing the two genes DOCK4 and IMMP2L, transmitted from the mother (who has dylsexia) to two children with autism and to a daughter with dyslexia. In the same family we identified a second microdeletion in 2q14, that inactivates CNTNAP5, and is transmitted by the father (with ASD) to the two children with autism. We therefore hypothesized that DOCK4 and CNTNAP5 could be implicated in susceptibility to dyslexia and ASD, respectively. Screening of numerous affected individuals supported our hypothesis, leading to the identification of a new DOCK4 microdeletion segregating with dyslexia, and 3 new missense variants in CNTNAP5 in individuals with autism.Through array comparative genomic hybridization (aCGH) of individuals with ID, we also identified a 7q31.32 microdeletion involving the CADPS2 gene in two brothers with ID and autistic features, probably inherited from the mother. Screening for mutations in this gene in individuals with autism or ID, has led to the identification of 3 maternally inherited nonsynonymous variants, absent in controls. Since CADPS2 is located in a genomic region containing imprinted loci, we hypothesized that CADPS2 itself could be subjected to imprinting, with maternal monoallelic expression. Expression analysis of CADPS2 in blood cells supported this hypothesis, therefore suggesting CADPS2 as a new susceptibility gene for ID and ASD, and as possible new imprinted gene .
Minopoli, Fiorella <1977>. "Analisi di “Copy Number Variants” ed identificazione di nuovi geni candidati per l’Autismo e Ritardo Mentale." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4838/.
Повний текст джерелаAutism spectrum disorders (ASD) and intellectual disability (ID) are characterized by a complex and heterogeneous genetic etiology. Recent developments in genomic research have enabled the discovery of numerous copy number variants (CNVs) in the pathogenesis of these disorders, although their etiology remains unknown in the majority of cases. This work concerns the identification and characterization of specific CNVs in families with ASD and ID. I studied a microdeletion in 7q31 encompassing the two genes DOCK4 and IMMP2L, transmitted from the mother (who has dylsexia) to two children with autism and to a daughter with dyslexia. In the same family we identified a second microdeletion in 2q14, that inactivates CNTNAP5, and is transmitted by the father (with ASD) to the two children with autism. We therefore hypothesized that DOCK4 and CNTNAP5 could be implicated in susceptibility to dyslexia and ASD, respectively. Screening of numerous affected individuals supported our hypothesis, leading to the identification of a new DOCK4 microdeletion segregating with dyslexia, and 3 new missense variants in CNTNAP5 in individuals with autism.Through array comparative genomic hybridization (aCGH) of individuals with ID, we also identified a 7q31.32 microdeletion involving the CADPS2 gene in two brothers with ID and autistic features, probably inherited from the mother. Screening for mutations in this gene in individuals with autism or ID, has led to the identification of 3 maternally inherited nonsynonymous variants, absent in controls. Since CADPS2 is located in a genomic region containing imprinted loci, we hypothesized that CADPS2 itself could be subjected to imprinting, with maternal monoallelic expression. Expression analysis of CADPS2 in blood cells supported this hypothesis, therefore suggesting CADPS2 as a new susceptibility gene for ID and ASD, and as possible new imprinted gene .
Bovina, Riccardo <1980>. "Identificazione di mutanti di interesse agronomico in orzo mediante approcci di genetica diretta e inversa." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1972/1/Bovina_Riccardo_Tesi.pdf.
Повний текст джерелаBovina, Riccardo <1980>. "Identificazione di mutanti di interesse agronomico in orzo mediante approcci di genetica diretta e inversa." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1972/.
Повний текст джерелаGoldoni, Alberto <1975>. "Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/42/1/SCHEMA_TESI_FINALE.pdf.
Повний текст джерелаGoldoni, Alberto <1975>. "Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/42/.
Повний текст джерелаMantovani, Paola <1978>. "Identificazione di un QTL principale per resistenza a ruggine bruna sul cromosoma 7B di frumento duro." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1748/1/Mantovani_tesi.pdf.
Повний текст джерелаMantovani, Paola <1978>. "Identificazione di un QTL principale per resistenza a ruggine bruna sul cromosoma 7B di frumento duro." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1748/.
Повний текст джерелаDESOGUS, ALESSIA. "Identificazione e analisi funzionale di fattori regolatori dei geni globinici." Doctoral thesis, Università degli Studi di Cagliari, 2014. http://hdl.handle.net/11584/266529.
Повний текст джерелаPICCIAU, SILVIA. "Identificazione dei fattori genetici coinvolti nella suscettibilità allo svilippo del tumore al polmone." Doctoral thesis, Università degli Studi di Cagliari, 2010. http://hdl.handle.net/11584/265930.
Повний текст джерелаZUNCHEDDU, MARIA ANTONIETTA. "Identificazione e caratterizzazione di un gene associato all'asma ad insorgenza precoce persistente." Doctoral thesis, Università degli Studi di Cagliari, 2007. http://hdl.handle.net/11584/265988.
Повний текст джерелаPrandini, Alberto. "Identificazione e caratterizzazione di una nuova sindrome da immunodeficienza primaria associata ad albinismo oculocutaneo." Doctoral thesis, Università degli studi di Trieste, 1985. http://hdl.handle.net/10077/8569.
Повний текст джерелаLa sindrome di Hermansky-Pudlak definisce un gruppo di immunodeficienze primarie rare caratterizzate da albinismo parziale, di tipo autosomico recessivo che si presentano con un quadro di infezioni ricorrenti e predisposizione ad emorragie. I geni causativi di queste patologie codificano proteine coinvolte nella biogenesi e nel trasporto di organelli intracellulari correlati a endosomi e lisosomi. Il caso giunto alla nostra attenzione presentava solo alcuni dei sintomi caratteristici di queste immunodeficienze. Escluse le malattie genetiche più note tramite sequenziamento diretto si è ricorso ad exome sequencing in modo da poter rilevare anche nuove variazioni non note. E' stata infatti riscontrata una mutazione in omozigosi sul gene PLDN (BLOC1S6), codificante una proteina chiamata Pallidina, una componente del complesso BLOC-1. La condizione risultante è stata identificata con il nome di “sindrome di Hermansky-Pudlak di tipo 9” (HPS-9). In questo studio dimostriamo che tale mutazione è associata alla patologia e che compromette la funzionalità del reparto immunitario sia citotossico (linfociti Natual Killer e CD8+) sia presentante l'antigene (cellule dendritiche).
XXV Ciclo
Torboli, Valentina. "Identificazione di molecole coinvolte dell'interazione ospite-patogeno in Mytilus galloprovincialis (Lamark, 1819) con tecnica phage-display." Doctoral thesis, Università degli studi di Trieste, 2015. http://hdl.handle.net/10077/10919.
Повний текст джерелаLe cellule di mollusco immunocompetenti, in primis gli emociti circolanti, provvedono ad una rapida e robusta risposta difensiva nel confronti dei potenziali patogeni. Una volta che gli emociti vengono attivati dall'interazione tra pattern molecolari (PAMPs) presenti sulla superficie dei patogeni e specifici PRRs (pattern recognition receptors) in grado di riconoscerli, queste cellule innescano reazioni difensive. Nonostante un numero sempre più elevato di molecole in grado di interagire con i PAMPs sia stato caratterizzato in M. galloprovincialis, ad oggi non è mai stato effettuato uno studio di interattomica per l’identificazione su larga scala dei PRRs di mitilo coinvolti nel riconoscimento di specifici patogeni. Lo scopo di questo studio è, dunque, quello di identificare i PRRs delle cellule di mollusco immunocompetenti coinvolti nel riconoscimento dei batteri Vibrio splendidus e V. aestuarianus, Gram-negativi presenti in acque costiere e associati ai casi di mortalità che hanno colpito gli allevamenti di ostriche in tutto il mondo e verso i quali i mitili mostrano, invece, notevole resistenza . Per eseguire questo tipo di analisi è stata utilizzata, in modo innovativo, la tecnica phage-display, che si basa sulla possibilità di far esprimere ad un batteriofago un peptide esogeno in fusione con una delle proteine del capside, in modo che la particella fagica esponga sulla sua stessa superficie il peptide di interesse. Il nuovo approccio utilizzato in questo studio ha permesso lo studio diretto dell’interazione tra i fagi recanti un pool di peptiti espressi da emociti di mitilo e i PAMPs presenti sulla superficie delle cellule batteriche. Mediante successive fasi di selezione e amplificazione delle particelle fagiche in grado di legarsi alla superficie dei batteri, è stato possibile arricchire la frazione di cDNA di mitilo codificante PRRs. Con tecniche di sequenziamento massivo e strumenti bioinformatici è stato poi possibile risalire a tutte le sequenze codificanti i peptidi selezionati. I risultati ottenuti indicano che vi è una notevole differenza tra il numero di PRRs di emociti di mitilo che ha interagito con V. splendidus ripetto a V. aestuarianus. Lo studio si è, quindi, incentrato sui 42 peptidi selezionati contro V. splendidus, presunti PRRs, identificandone alcuni con funzione immunitaria già nota (C-type lectin, FREPs, C1qDC proteina, apextrin-related proteina), alcuni presumibilmente falsi positivi ed altri completamente nuovi che non mostrano similarità con sequenze omologhe annotate e il cui ruolo e funzione andrebbero indagati con futuri studi sperimentali.
XXVII Ciclo
1985
Ruggieri, Alessandra. "identificazione e caratterizzazione di una nuova miopatia vacuolare causata da una mutazione nel gene PLIN4 e possibili strategie per lo sviluppo di una terapia." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/554978.
Повний текст джерелаIn a family affected by distal vacuolar myopathy we performed genome exome and RNAseq, failing to identify probably pathogenic coding variants. At the same time, a patient with a recombination underwent a muscle biopsy in which an immunohistochemical analysis showed an increased signal at the subsarcolemmal level and within the vacuoles, of two proteins linked to the degradation of the misfolded and aggregated proteins, p62 / SQSTM1 and ubiqutinated proteins (FK2). The same analysis on patients with increasing severity of the phenotype showed a correlation with the intensity of these proteins’ signals. Therefore, we hypothesized that the protein that was labeled so specifically must be our mutated protein. We then performed a laser microdissection of the vacuoles with mass spectrometry analysis, thus highlighting that the protein accumulated in the vacuoles and encoded by the PLIN4 gene present on the common haplotype, was perilipin 4. From the re-analysis of the NGS data we identified a coverage peak compatible with a possible repetition of the sequence. Long-read sequencing using Oxford Nanopore Technology identified an expansion of 9x99 nucleotides in the exon 3 region, encoding the amphipathic domain of perilipin-4, a region structurally related to the amphipathic helices present in α-synuclein and apolipoproteins. The immunohistochemical analysis focused on the aggreaphagy pathway confirmed that the accumulation of perilipin-4 in the muscle is associated with the activation of this pathway, mediated by the ubiquitination of the aggregates and responsible for eliminating them through autophagy. This new pathology is therefore an aggregate accumulation disease, caused by an expansion of a region of the protein with the apparent inability of the aggrephagy itself to control its accumulation. The study of the molecular mechanism at the cellular level was not possible in myoblasts derived from patient biopsies, as this protein does not appear to be expressed at this level. Therefore, we decided to generate an overexpression model in which the mutated and wild-type proteins will be compared to validate the propensity of the mutated variant to cause aggregate precipitation.
FERRIAN, Melissa. "Identificazione di loci di suscettibilitá ed interazioni epistatiche associate allo sviluppo di schisi orofacciali isolate." Doctoral thesis, Università degli studi di Ferrara, 2011. http://hdl.handle.net/11392/2388833.
Повний текст джерелаRonchi, D. "IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI." Doctoral thesis, Università degli Studi di Milano, 2010. http://hdl.handle.net/2434/155501.
Повний текст джерелаFRANCESCHELLI, Paola. "IDENTIFICAZIONE DI VARIANTI GENETICHE ASSOCIATE A RISCHIO DI LABIO/PALATOSCHISI O PALATOSCHISI NON-SINDROMICHE E DI INTERAZIONI GENE-AMBIENTE IN UNA AMPIA CASISTICA DI TRIADI EUROPEE." Doctoral thesis, Università degli studi di Ferrara, 2015. http://hdl.handle.net/11392/2389102.
Повний текст джерелаMELONI, CRISTIANA. "Identificazione di una variante missenso nel gene RBM10 in una famiglia sarda con disabilità intellettiva X-linked." Doctoral thesis, Università degli Studi di Cagliari, 2016. http://hdl.handle.net/11584/266631.
Повний текст джерелаShams, Shiva. "Diversity, impact and fate of cyanobacterial toxins in freshwater ecosytems." Doctoral thesis, country:DE, 2015. http://hdl.handle.net/10449/24890.
Повний текст джерелаLibri, D. V. "ANALISI MOLECOLARE E FUNZIONALE DI NUOVE VARIANTI PATOGENETICHE E IDENTIFICAZIONE DI NUOVI GENI CANDIDATI, NELLA PIÙ VASTA CASISTICA ITALIANA DI IPOGONADISMO IPOGONADOTROPO E SINDROME DI KALLMANN." Doctoral thesis, Università degli Studi di Milano, 2012. http://hdl.handle.net/2434/171960.
Повний текст джерелаSABBATINI, DANIELE. "Identificazione e caratterizzazione dei modificatori genetici della DMD." Doctoral thesis, Università degli studi di Padova, 2022. http://hdl.handle.net/11577/3458325.
Повний текст джерелаBackground: Despite promising advances made in the past 30 years owing to the identification of the molecular bases of Duchenne muscular dystrophy (DMD), several obstacles remain for a full translation of novel therapies into clinical practice, and DMD patients and their families must still cope with severe disability and grim perspectives for the future. One of the most challenging hurdles to the success of clinical trials is the considerable inter-patient variability in terms of age at presentation, weakness progression, and degree of involvement of the central nervous system (CNS) observed in DMD, that is, the relevant phenotypic variability of DMD. The genetic background, that is, variations in genes different from disease genes, is increasingly believed to modulate the phenotype of Mendelian diseases. These trans-acting variants are called genetic modifiers. In this thesis, we aimed to deepen current understanding of these mechanisms. Therefore, the following aims were formulated. Aims: • In this project, we aimed to perform a genome-wide association study (GWAS) to search for DMD modifier loci, leveraging on clinical data and DNA samples from a large cohort of DMD patients followed by the Consortium of Italian Centers, which has collaborated to study DMD natural history over the past decade. In this thesis we present preliminary data on 265 DMD patients, but the final GWAS (still in progress, delayed by the Covid-19 pandemic) will include 700+ patients. • We also aimed to identify candidate variants involved in the modulation of the CNS phenotype in dystrophinopathies, by performing whole genome sequencing (WGS) in a pair of DMD siblings with discordant cognitive phenotypes and by filtering variants using a dedicated bioinformatic algorithm. • Lastly, we aimed to verify if known genetic modifiers of loss of ambulation (LoA) in DMD, both cis and trans acting, also affect the Performance of the Upper Limbs measured with the PUL test. Moreover, all associations were tested for validation in an independent cohort (i.e. Cooperative International Neuromuscular Research Group Duchenne Natural history Study, CINRG-DNHS) in which patients had been tested using the Brooke scale for upper limb function. Results: • We identified a list of SNPs with a suggestive p value, revealing the presence of a candidate locus in chromosome 1, at a distance of ~3,800 bp upstream of the C1orf21 locus, whose functional meaning needs to be further elucidated. • Regarding WGS in a pair of DMD siblings with discordant cognitive phenotypes, we focused our attention on two SNPs, and a deletion resulting from the breakdancer analysis. All of these variants reside within in a risk-genes for autism, and are co-expressed with dystrophin. The first one is a single SNP upstream of ANK3, and the second an intronic variant in NRXN3, encoding the dystrophin-associated glycoprotein neurexin 3. Both of these variants were previously identified in a WGS study of ASD twins. In our family, the younger brother (suffering from ASD) was heterozygous for both of these variants, while the elder was homozygous for the wild-type allele at both loci. • Finally, significant associations were observed between additive CD40 rs1883832 genotype and shoulder/distal PUL subscores, with a trend of association in the total score. Additive ACTN3 rs1815739 genotype was also significantly correlated with elbow and distal subscores Moreover, it was possible to assess a significant association of CD40 rs1883832 and SPP1 rs28357094 with the Brooke score in the CINRG-DNHS cohort.
Soli, Andrea. "Identificazione di strutture reticolari mediante prove dinamiche e algoritmi genetici." Master's thesis, Alma Mater Studiorum - Università di Bologna, 2017.
Знайти повний текст джерелаCriscio, Davide. "identificazione di danneggiamenti in strutture reticolari mediante algoritmi genetici e prove dinamiche." Master's thesis, Alma Mater Studiorum - Università di Bologna, 2017.
Знайти повний текст джерелаGotti, Carlo. "Utilizzo di algoritmi genetici nell'ambito della bioingegneria: Applicazione alla identificazione di modelli cardiaci." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2013. http://amslaurea.unibo.it/6446/.
Повний текст джерелаDE, MICHELE MARIA. "Genetic fingerprinting and potential grape quality of old Vitis vinifera genotypes." Doctoral thesis, Università di Foggia, 2016. http://hdl.handle.net/11369/363064.
Повний текст джерелаThe recovery and valorization of genetic resources typical of a specific growing area is fundamental to preserve the specie genetic pool, and presently it is thought as a strategy to promote the territorial identity and the diversification of the local food products. Apulia is an ancient grapevine-growing region, having a rich heritage of grapevine varieties. The Daunia area, in the Foggia province (Northern Apulia), is the main Apulian viticultural area in terms of surface and production. A total of 35 grapevine genotypes found in three different areas of the province dauna were characterized using fourteen microsatellite markers (VVS2, VVMD5, VVMD7, VVMD27, VrZAG62, VrZAG79, VVMD25, VVMD28, VVMD32, VVMD6, VVMD17, VVMD21, VVMD24, VMC1b11) to evaluate genetic diversity and assessing the main qualitative characteristics of their grapes from a technological and phenolic point of view, in order to evaluate the potential interest of these genotypes for the oenological use. According to their genetic profiles at SSR loci, 30 different genetic profiles and 3 overlays were found. Comparing the 30 genetic profiles with those included in international databases or with those detected by other scientific Institutions, 23 genotypes have been identified. Most of them (87%) were found to match cultivars enrolled in National Catalogue of Grapevine Varieties (RNVV); the remaining genotypes (13%) are not enrolled in RNVV. The genetic profile of the other 7 genotypes was not found in any database; thus, by now, each of these accessions can be considered as being a “unique genotype”. As concerns the oenological potential of the accessions, all of them showed interesting traits. In particular, among the genotypes considered “unique”, four accessions, two white-berry accession and two black berry-accessions, showed a good attitude for the production of mono-varietal wines with a good level of alcohol, stability, structure, color and flavor, but, also for the production of blended wines. In conclusion, this study has highlighted the richness of old grapevine genotypes grown in the Foggia province and the oenological skills of the grape produced by these genotypes, analyzing the technological and the phenolic traits that may be useful to support the making of mono-varietal wines or that of wines obtained by blending more local varieties
FIORITI, SIMONA. "Identificazione di geni di oxazolidinone resistenza e caratterizzazione degli ambienti genetici in enterococchi di origine suina isolati in allevamenti della regione marche." Doctoral thesis, Università Politecnica delle Marche, 2021. http://hdl.handle.net/11566/290939.
Повний текст джерелаObjectives: To investigate the occurrence, the genetic environments and the transferability of oxazolidinone resistance genes in enterococci of swine origin. Materials and Methods: A total of 255 faecal samples were collected from 76 pig farms of Marche region. Selected florfenicol-resistant enterococci were screened for optrA, cfr, and poxtA genes by PCR. Isolates with at least one linezolid resistance determinant were tested for their susceptibility. Resistance genes transfer (filter mating), localization (S1-PFGE/hybridization), genetic contexts and clonality (WGS) were analyzed. Results: One hundred forty-five florfenicol-resistant enterococci were isolated from swine fecal samples. Thirty florfenicol-resistant enterococci from 23 farms had at least one linezolid resistance gene. optrA was found to be the most widespread linezolid resistance gene (24/31), while cfr and poxtA were detected in 6/31 and 7/31 enterococcal isolates, respectively. WGS analysis also showed the presence of the cfr(D) gene in Enterococcus faecalis (n = 2 isolates) and in Enterococcus avium (n = 1 isolate). The linezolid resistance genes hybridized both on chromosome and plasmids ranging from ~25 to ~240 kb. Twelve isolates were able to transfer linezolid resistance genes to enterococci recipients. WGS analysis showed a great variability of optrA genetic contexts identical or related with transposons (Tn6628 and Tn6674), plasmids (pE035 and pWo27-9) and chromosomal regions. cfr genetic environments showed identities with Tn6644-like transposon and a region from p12-2300 plasmid; cfr(D) genetic contexts were related to the corresponding region of the plasmid 4 of Enterococcus faecium E8014; poxtA was always found on Tn6657 transposon. Circular forms were obtained only for optrA- and poxtA-carrying genetic contexts. Clonality analysis revealed the presence of clones of E. faecalis (ST16, ST27, ST476, and ST585) and E. faecium (ST21) previously isolated from humans. Conclusions: These results demonstrate a dissemination of linezolid resistance genes in enterococci of swine origin in Central Italy and confirm the spread of linezolid resistance in animal settings
Molteni, A. "PROFILI SOSPETTI. STRUMENTI DI IDENTIFICAZIONE CRIMINALE E PRATICHE DI CLASSIFICAZIONE: LA BANCA DATI NAZIONALE DEL DNA." Doctoral thesis, Università degli Studi di Milano, 2011. http://hdl.handle.net/2434/160738.
Повний текст джерелаVenturini, Luca. "Gemello digitale di un ponte in muratura mediante analisi modale operazionale e algoritmi genetici." Master's thesis, Alma Mater Studiorum - Università di Bologna, 2022.
Знайти повний текст джерелаDurante, Sandra <1980>. "Identificazioni di nuove alterazioni genetiche nell'adenocarcinoma duttale pancreatico e nelle lesioni pre cancerose mediante tecnologia Whole Genome Sequencing e Oncoscan Array." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2020. http://amsdottorato.unibo.it/9264/1/TESI%20DI%20DOTTORATO%20SANDRA%20DURANTE.pdf.
Повний текст джерелаPDA is the fourth leading cause of cancer death, with a 5-years survival rate of 5% . Surgery remains the most effective treatment, but only 20% of patients are suitable for radical resection. Advances in chemotherapy, represented by FOLFIRINOX and by gemcitabine plus nab-paclitaxel regimens, have resulted in a modest outcome improvement..A thorough understanding of the genetic changes that will drive pancreatic carcinogenesis can lead to identification of biomarkers for early detection and targets for therapy. We used an approach with high resolution cytogenetic analysis Oncoscan Array and WES a bioinformatic, clinically-oriented interpretation of data to understand what are the most relevant pathways altered in precursor lesions and overt cancers to identify new therapeutic options for patients affected by PDA. In this study a total of 20 formalin fixed paraffin embedded samples from IPMN, profiled by Oncoscan and were analysed 30 fresh-frozen biopsies by WES . We identified in IPMN multiple copy number alterations and interestingly, differences were seen in the lesions at different stages, with 7 IPMN with low-intermediate dysplasia carrying a nearly normal karyotype and 13 IPMN with complex Karyotype (> 4 alterations), showing high grade dysplasia. A specific gain of chromosome arm 3q was found in IPMN with complex Karyotype (92%). This gain of 3q is particularly interesting for the presence of oncogenes such as PIK3CA, GATA2 and TERC that are part of pathways that deregulate cell growth and promote disease progression. In 30 sample analyzed with WES our results confirmed the high prevalence of KRAS, CDKN2A, TP53 and SMAD4 mutations. In particular, 93.7% of tumor samples exhibited somatic mutations acti¬vating KRAS and gene amplifications .The identification of these markers at an early stage of disease onset helps to identify patients at risk for cancer progression and new candidates for a more specific targeted therapy
MILANI, CHANTAL. "Identificazione dei corpi senza nome in Lazio: odontologia e antropologia forense, medicina legale e genetica forense." Doctoral thesis, 2021. http://hdl.handle.net/11573/1492395.
Повний текст джерелаSPIAZZI, Massimiliano. "Sviluppo di metodiche di tracciabilità molecolare per l'identificazione di specie, in matrici semplici e complesse, di origine animale e vegetale." Doctoral thesis, 2009. http://hdl.handle.net/11562/337436.
Повний текст джерелаSeveral phenomena related to globalization, such as the emergence of new food products and initiatives to promote local products with the creation of labels of origin, have led to the need to develop new analytical methods to ensure quality and compliance with the legal requirements imposed on food production. The present study dealt with different aspects of food chain traceability by assessing the ability to apply innovative methods to solve real problems. The first chapter deals with the problematic of allergenic matrix detection in food products. For this purpose two molecular methods have been compared, namely PCR and Real-time PCR using specific UPL probes commercially developed by Roche. The results clearly show the advantage in terms of detection sensitivity using the method of Real-time PCR with UPL probes that allowed us to obtain detection limits up to three orders of magnitude lower than the traditional method of PCR. The simplicity of the methodology developed, the relatively low cost and the high sensitivity, in line with regulatory requirements, make this approach a reliable tool for allergen detection in food matrix. In the second part of this work we have investigated the enormous potential of DNA barcoding technique for the identification of animal species. We have developed an APEXmicroarray plateform that is a powerful, economical and rapid instrument for species identification, using data obtained by DNA barcoding. The performances of this innovative plateform have been successfully applied for the identification of five fish species of commercial interest. The last part of this thesis concerned the research and the evaluation in terms of amplificability and informativity of potential candidate genes as universal barcodes for the vegetal kingdom. Gene assessment has been carried out on a collection of plant species belonging to Passiflora genus that possesses noteworthy interests in food field as well as in medical field. Two genes, namely rpoC1 and ncpGS, have been found to be able to discriminate species in Passiflora genus. Using a multilocus approach we have been able to improve the accuracy of the identification and the definition of phylogenetic trees.
PURELLI, Marina. "Identificazione, caratterizzazione ed analisi funzionale di un fattore di trascrizione MYB di Vitis vinifera putativamente coinvolto nella regolazione della biosintesi dei benzenoidi volatili." Doctoral thesis, 2009. http://hdl.handle.net/11562/337347.
Повний текст джерелаThe Vitis vinifera berry synthesizes the major determinants of the wine flavours, aromas, and colours. Flavours arise from volatile compounds, such as terpenes, norisoprenoids, and thiols stored as sugar or amino acid conjugates in the vacuoles of exocarp cells (Lund and Bohlmann, 2006). From the scent producing P. hybrida cv Mitchell was recently identified ODORANT1, an R2R3MYB-type transcription factor, which controls the synthesis of volatile benzenoids and regulates, at transcriptional level, shikimate pathway by the ability to activate EPSPs promoter (Verdonk et al, 2005; Ben Zvi et al, 2008). In this study we would like to identify genes involved in the synthesis of the principal volatile phenolic-benzenoids such as benzaldehyde (bitter almond taste in wine), phenylacetaldhyde, benzyll alcohol, 2-phenylethanol (rose) and vanilline (vanilla) that are found mainly in grape berry skin and that are involved in the primary aromas developing during berry ripening (Garcia et al, 2003). BlastP analyses were performed against the Genoscope Blast Server (www.genoscope.cns.fr) using the Petunia ODO1 sequence against the grapevine genome (French-Italian Public Consortium for Grapevine Genome Characterization, 2007). Three putative grapevine genes with the best amino acidic homology to PhODO1 were identified: VvODO3 (58% homology), VvODO2 (53% homology) and VvODO1 (51% homology). The expression level of each grapevine gene was analyzed in developing vegetative and reproductive organs of plants of V. vinifera cv. Corvina (clone 48) by Real-Time RT-PCR experiments. The results suggest that the three genes could be involved in the regulation of the synthesis of volatile benzenoids precursors in an organ specific way. The transcriptional profile of these regulatory genes was also studied during development, and withering of berries of V. vinifera cv. Corvina sampled in the season 2006. The results showed that the regulation of the volatile benzenoids synthesis seems to occur during the first phase of the berry development. VvODO1, VvODO2, VvODO3 were independently over-expressed in P. hybrida cv. Mitchell plants. Transgenic petunia plants and their flowers, expressing the heterologous genes, were analyzed for the expression levels of structural genes and their floral scent production. To analyze volatile compounds produced by petunia flowers in vivo, and to be able to follow volatile release during flower development, a Solid Phase Micro Extraction (SPME) device is placed in the floral headspace, which is subsequently analyzed by GC-MS. From the results of the analysis of the GC-MS spectra, it was clear that over-expressing VvODO3 increased the production levels of benzenoids molecules, despite the unchanged RNA levels of the major genes involved in the biosynthesis process.
SAPIENZA, IRENE. "Caratterizzazione genetica del suino Nero Siciliano mediante tecniche di Next Generation Sequencing: Whole Genome sequencing, SNPs discovery ed identificazione di polimorfismi associati allo spessore del lardo dorsale." Doctoral thesis, 2018. http://hdl.handle.net/11570/3131008.
Повний текст джерелаAbstract Background In recent decades, many local breeds have been subjected to genetic erosion and loss of biodiversity resulting in the impoverishment of a precious gene pool that has mainly affected marginal areas and low input breeding systems. Nero Siciliano pig is a local breed reared mainly in the Nebrodi Mountains of Sicily (Italy). In 2003 was established a Consortium for the valorization of its productions and a request to label the fresh Nero Siciliano meat with the Protected Denomination of Origin (PDO) was issued in 2005. The request for the PDO has been started also for Nero Sicliano’s cured ham in 2011. In this study we report an in silico comparison of 48 candidate genes involved in meat quality traits, retrieved by using Nero Siciliano (NS), Large White (LW), Landrace (LAN) and Duroc (DU) genomes. The latter is the reference genome for pig (Sscrofa11.1). We focused on genes related to muscle mass deposition and carcass fatness as these traits influence technological processes adopted for long matured pork meats products such as cured ham. Results More than twenty thousand variants were identified by comparing the gene set of each breed to the reference genome assembly. Of these ~22,000 were SNPs, ~3,000 short insertions and ~1,400 short deletions. Transitions / transversions ratio was 2.650 while missense/silent ratio resulting in 0.526. Furthermore, over 40% of intronic variants and ~45% of non coding transcript variants were also identified. Among all variants detected in this study, more than 3,000 were shared among NS, LW and LAN while ~7,000 were unique for NS, ~2,000 for LW and ~6,000 for LAN. Among the unshared SNPs (5,659) of NS, 856 were in homozygosity while 4,803 in heterozygosity; 802 were novel while 4,857 were already present in dbSNP. Conclusions In recent decades, the FAO (Food and Agriculture Organization) has expressed concern about the progressive replacement of local breeds with improved cosmopolitan breeds, since the latter cannot compete with the autochthonous ones characterized by rusticity, resistance to disease and adaptation to reduced food availability. Many indigenous breeds’ present unique characteristics that can contribute to tackling the challenges linked to climate change, the growing demand for food connected to the increase in the world population and food security. In this study, we identified 7,293 unique variants in a subset of genes fatness-related, in Nero Siciliano pig. Unshared SNPs and fixed in the breed could be the starting point for a molecular detection of breed specific DNA markers useful for breed differentiation and the authentication of their products. Methods for the authentication of breed-specific products are key tools to defend the added economic value of these products that represent the strategy to obtain a sustainable conservation of local animal genetic resources.
Background Fat deposition is a key biological process that has implications in pig economic management as it affects carcass quality and aptitude to production of cured ham. The association of single nucleotide polymorphisms (SNPs) with carcass traits in pig has been confirmed in several studies but the association depended from genetic backgrounds of different breeds. Here we present a study carried out in order to detect single nucleotide polymorphisms (SNPs) that could be associated with back fat thickness (BFT) in Nero Siciliano pigs. Genomic DNA from two groups of Nero Siciliano pigs with divergent phenotype for BFT were pooled and digested with BsuRI (HaeIII) restriction enzyme for preparation of reduced representation libraries (RRLs). Then, sequencing of the two libraries was carried out on Personal Genome Machine (Life technologies). Results The two RRLs produced 4124595 (BFT+) and 4052107 (BFT-) sequenced reads, which after cleaning (filtering and trimming) were mapped on Sus scrofa reference genome (Sscrofa 11.1 assembly). Only reads with mapping quality score> 20 were retained for subsequent analysis. SNP calling was performed using SNAPE, a software that implement a Bayesian approach for SNP calling in pooled samples. 47,791 putative SNPs were called by SNAPE, of these 32,235 (67.4%) were polymorphic while 15,556 (32.5%) were monomorphic. Sanger sequencing was carried out to confirm NGS data on a few regions showed alternative read count between the two libraries, in individual pigs included in each pool. Fischer’s exact test was performed in order to evaluate differences in allele frequency estimates as determined by alternative read count between the two libraries. Of all SNPs detected in this study, 22 showed enriched alleles in one or in the other RRLs. These SNPs, some of these localised in genes involved in fat metabolism, might be potential markers associated with BFT in Nero Siciliano pig. Conclusions Fatness-related traits, in particular the backfat thikness, are very important in pig production since they influence meat quality and technological processes adopted for long matured products such as cured ham. For valorisation of Nero Siciliano’s productions, a request to label the fresh meat with the Protected Denomination of Origin (PDO) was issued in 2005 while for Nero Sicliano’s cured ham the request for the PDO has been started in 2011. In this study, we identified SNPs potentially associated with BFT that might be utilized for applications in breeding programs. Attitude to high fat deposition (in particular in neck, withers and back) for the Nero Siciliano pig is known and our results could contribute to explain the biology of fat metabolism in this breed.
MARIESCHI, Matteo. "Identificazione di possibili sofisticazioni in preparati commerciali di origano Mediterraneo ed analisi genetica di Origanum spp. mediante marcatori molecolari genomici: Random Amplified Polymorphic DNA (RAPD) e Sequence Characterized Amplified Region (SCAR)." Doctoral thesis, 2010. http://hdl.handle.net/11381/2306929.
Повний текст джерелаRINALDI, MARIANNA. "Identificazione di fattori di rischio genetici, alimentari e comportamentali nell’invecchiamento cerebrale in Val Cenischia (Piemonte)." Doctoral thesis, 2014. http://hdl.handle.net/2158/851897.
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