Дисертації з теми "SNP candidati"
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Raschetti, M. "RICERCA E VALIDAZIONE DI SNP IN GENI CANDIDATI PER LA QUALITÀ DELLA CARNE E APPLICAZIONE DELL'ANALISI GENOMICA ALLA SPECIE SUINA." Doctoral thesis, Università degli Studi di Milano, 2010. http://hdl.handle.net/2434/150123.
Повний текст джерелаAbou-Khater, Charbel. "Caractérisation de nouveaux gènes et polymorphismes potentiellement impliqués dans les interactions hôtes-pathogènes." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0196/document.
Повний текст джерелаHost-pathogen co-evolution and interactions contribute in shaping the genetic diversity of both organisms. The objective of this thesis is to define the genetic basis of variability in disease resistance/susceptibility through the development of large-scale in silico screens to identify novel gene candidates implicated in host-pathogen interactions (such as tuberculosis).A pilot study was conducted on CD28, CTLA4, and ICOS to investigate their polymorphism. As a first step in our study based on data available in the literature, we selected a set of ten genes relevant for the immune response against M. tuberculosis. Seven of these genes were moderately polymorphic, while three of them were highly conserved. This analysis was used to prepare and setup the large scale analysis using the same developed pipeline for polymorphism detection and allele reconstruction. For our in silico, we used sequence data from several projects and consortiums to isolate most polymorphic human genes amongst a list of over 1760 candidates selected based on already established relevance for infections and on evolutionary considerations. A first screen of 64 individuals from eight different populations from several regions of the world was performed and most variable genes were selected for further extensive analyses on a larger panel (715 individuals). 30 most polymorphic genes were thus identified. The extent of polymorphism and the allelic worldwide variants of each of these 30 genes are ready to be fully characterized. The data generated could be compared against infectious disease resistance/susceptibility data to identify potentially relevant gene variation
Feuk, Lars. "SNP based strategies to study candidate genes for Alzheimer's disease /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-334-1.
Повний текст джерелаLalagüe, Hadrien. "Genetic response of tree population to spatial climatic variation : an experimental genomic and simulation approach in Fagus sylvatica populations along altitudinal gradients." Thesis, Montpellier 2, 2013. http://www.theses.fr/2013MON20042/document.
Повний текст джерелаA major challenge in population genetics is to understand the local adaptation process in natural population and so to disentangle the various evolution forces contributing to local adaptation. The experimental studies on local adaption generally resort to altitudinal gradients that are characterized by strong environmental changes across short spatial scales. Under such condition, the genetic differentiation of the functional trait (measured by the Qst) as well as the genes coding for trait (measured by Fstq) are expected to be mainly driven by selection and gene flow. Genetic drift and mutation are expected to have minor effect. Theoretic studies showed a decoupling between Qst and Fst under strong gene flow and / or recent selection. In this study, I tested this hypothesis by combining experimental and modelling genomic approach in natural population of Fagus sylvatica separated by ~3 kilometres and under contrasted environments.Sampling was conducted in south-eastern France, a region known to have been recently colonised by F.sylvatica. Four naturally-originated populations were sampled at both high and low elevations along two altitudinal gradients. Populations along the altitudinal gradients are expected to be subjected to contrasting climatic conditions. Fifty eight candidate genes were chosen from a databank of 35,000 ESTs according to their putative functional roles in response to drought, cold stress and leaf phenology and sequenced for 96 individuals from four populations that revealed 581 SNPs. Classical tests of departure of site frequency spectra from expectation and outlier detection tests that accounted for the complex demographic history of the populations were used. In contrast with the mono-locus tests, an approach for detecting selection at the multi-locus scale have been tested.The results from experimental approaches were highly contrasted according the method highlighting the limits of those method for population loosely differentiated and spatially close. The modelling approach confirmed the results from the experimental data but revealed that up to 95% of the SNPs detected as outliers were false positive. The multi-locus approach revealed that the markers coding for the trait are differentially correlated compared to the neutral SNPs. But this approach failed to detect accurately the markers coding for the trait if no a priori knowledge is known about them. The modelling approach revealed that genetic changes may occur across very few generation. But while this genetic adaptation is measurable at the trait level, the available method for detecting genetic adaptation at the molecular level appeared to be greatly inaccurate. However, the multi-locus approach provided much more promise for understanding the genetic basis of local adaptation from standing genetic variation of forest trees in response to climate change
Costa, ?rica Cristina Xisto da. "Polimorfismo do gene MSTN e do SNP BIEC2-808543 e sua rela??o com crescimento de potros da ra?a brasileiro de hipismo." Universidade Federal Rural do Rio de Janeiro, 2015. https://tede.ufrrj.br/jspui/handle/jspui/1392.
Повний текст джерелаMade available in DSpace on 2017-01-25T15:40:39Z (GMT). No. of bitstreams: 1 2015 - ?rica Cristina Xisto da Costa.pdf: 2608729 bytes, checksum: a906abcd8f725dc6509fedcf8de9e08c (MD5) Previous issue date: 2015-07-31
Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior - CAPES
The gene encoding myostatin (MSTN), located on chromosome 18 (ECA 18) and the SNP BIEC2-808543 located in the intergenic region, which precedes the gene encoding the protein similar to the nuclear corepressor receptor dependent binder (LCORL), located on chromosome 3 (ACE 3) in horses, both positioned in regions that are associated with conformational traits of these animals. In view of this, we aimed to identify if the variations described in MSTN and LCORL loci exist in the study population; and to identify the effects of these polymorphisms on the growth profiles of these animals. For this purpose, the characteristics measured were weight, height at withers and hip height of foals at different ages, belonging to the Coudelaria e Campo de Instru??o de Rinc?o do Ex?rcito Brasileiro. Nonlinear mixed models were adjusted resulting from the combination of six nonlinear simple models, Brody (1945), Gompertz (Winsor, 1932), Logistics (Ratkowski, 1983), Von Bertalanffy (1957), generalized Michaelis- Menten (Lopez et al., 2000) and Richards (1959) associated with four types of variance functions for each model, homogeneous, exponential, asymptotic and staggered. The polymorphism described in the promoter region of the MSTN gene was not found in the studied population, in which there has been only the T allele, however the BIEC2-808543 polymorphism, located in the region prior to the LCORL gene is significantly associated (P <0, 05) to the characteristics evaluated, in which the animals who presented the genotype TT were smaller and lighter when compared to the other genotypes. There was no significant difference between animals with CT and CC genotype. The model that best describes the growth curve for body mass variance is the model of Brody (1945) associated with the scaled variance for the variable height at the withers the model that best fit was the Von Bertalanffy (1957) (adjusted without polymorphism effect in b) parameter associated with the asymptotic variance and the characteristic hip height the model that best described was that of Brody (1945) associated with the asymptotic variance, explaining that the nonlinear mixed models are indeed promising to describe equine growth curves, for the simple models did not differ much among themselves what defined in fact the selection of the model was the variance, being for body mass staggered variance and the height at the withers and on the back, the asymptotic variance. This polymorphism can be used as molecular markers for early selection of foals as to the characteristics evaluated
O gene que codifica a miostatina (MSTN), localizado no cromossomo 18 (ECA 18) e o SNP BIEC2-808543 localizado na regi?o interg?nica que antecede o gene que codifica a prote?na semelhante a correpressor de receptor nuclear dependente de ligante (LCORL), localizado no cromossomo 3 (ECA 3) de cavalos, ambos posicionados em regi?es que est?o associadas ?s caracter?sticas conformacionais destes animais. Diante disto, objetivamos identificar se as varia??es descritas nos loci MSTN e LCORL, existem na popula??o em estudo; al?m de verificar os efeitos desses polimorfismos sobre os perfis de crescimento desses animais. Com este intuito foram mensuradas as caracter?sticas massa corporal, altura na cernelha e altura na garupa de potros em diversas faixas et?rias, pertencentes ? Coudelaria e Campo de Instru??o de Rinc?o do Ex?rcito Brasileiro. Foram ajustados modelos n?o lineares mistos que resultaram da combina??o de seis modelos n?o lineares simples, Brody (1945), Gompertz (Winsor, 1932), Log?stico (Ratkowski, 1983), Von Bertalanffy (1957), Michaelis-Menten generalizado (L?pez et al., 2000) e Richards (1959), associados a quatro tipos de fun??es de vari?ncia para cada modelo, homog?nea, exponencial, assint?tica e escalonada. O polimorfismo descrito na regi?o promotora do gene MSTN n?o foi encontrado na popula??o estudada, na qual observa-se apenas o alelo T, entretanto o polimorfismo BIEC2-808543, localizado na regi?o que antecede o gene LCORL, est? significativamente associado (P<0,05) ?s caracter?sticas avaliadas, sendo os animais que apresentaram o gen?tipo TT menores e mais leves quando comparado com os demais gen?tipos. N?o foi observada diferen?a significativa entre os animais com gen?tipo TC e CC. O modelo que melhor descreve a curva de crescimento para a vari?vel massa corporal ? o modelo de Brody (1945) associado com a vari?ncia escalonada, para a vari?vel altura na cernelha o modelo que melhor se ajustou foi o de Von Bertalanffy (1957) (ajustado sem efeito de polimorfismo no par?metro b) associado com a vari?ncia assint?tica e para a caracter?stica altura na garupa o modelo que melhor a descreveu foi o de Brody (1945) associado ? vari?ncia assint?tica, elucidando que os modelos n?o-lineares mistos s?o de fato promissores para a descri??o de curvas de crescimento de equinos, pois os modelos simples n?o diferiram muito entre si o que definiu de fato a sele??o do modelo foi a vari?ncia, sendo para massa corporal a vari?ncia escalonada e para as alturas, na cernelha e na garupa, a vari?ncia assint?tica. Este polimorfismo pode ser utilizado como marcador molecular para sele??o precoce de potros quanto ?s caracter?sticas avaliadas
Alves, Fernanda Aparecida Vargas de Brito e. "ANÁLISE DO POLIMORFISMO T102C DO RECEPTOR DE SEROTONINA (HTR2A) EM PACIENTES COM FIBROMIALGIA E CONTROLES." Pontifícia Universidade Católica de Goiás, 2012. http://localhost:8080/tede/handle/tede/2360.
Повний текст джерелаIntroduction: Fibromyalgia is a syndrome characterized by widespread chronic pain. The syndrome is chronic with dubious possibility of healing. The prevalence in the world population varies from 0,66 to 4,4 %. It is believed that fibromyalgia is the result of abnormal changes in sensory processing of pain. In this context, are inserted gene polymorphisms T102C gene HTR2A serotonin receptor. The HTR2A gene T102C polymorphism is the presence of a thymine (T) or cytosine (C), defined by a transition from T to C at nucleotide position 102. It is a silent polymorphism receptor gene HTR2A, which determine the different levels of gene expression. Objectives: To determine and compare the allele frequency and genotype of the T102C polymorphism of the serotonin receptor gene HTR2A in a group of 48 women diagnosed with fibromyalgia and 50 healthy controls. Methodology: For this we used the PCR- RFLP , from DNA extracted from peripheral blood samples obtained from control and testing. The comparison of allele and genotype frequencies was performed by Chi -square test. Results: The results showed allele frequencies obtained for both groups were: T (46,9%) and C (53,1%). The TT genotype frequencies were found (22,9%), TC (47,9%) and CC (29,2%) for patients with fibromyalgia and TT (16%), TC (70%) and CC (14%) for controls. Conclusions: The FMS is composed of multiple characteristics that reflect a diversity of causes. Our results showed a significantly higher frequency for the CC genotype in patients with FMS, partially explaining the reduced serotoninergic response observed in such patients.
Introdução: A Fibromialgia é uma síndrome reumática caracterizada por dor difusa e crônica. A síndrome é crônica com duvidosa possibilidade de cura. A prevalência na população mundial varia de 0,66 a 4,4%. Acredita-se que a fibromialgia seja o resultado de mudanças anormais no processamento sensorial da dor. Neste contexto, inserem-se os polimorfismos do gene T102C do gene do receptor de serotonina HTR2A. O polimorfismo T102C do gene HTR2A consiste na presença de uma timina (T) ou citosina (C), definida por uma transição de um T para C na posição nucleotídica 102. Trata-se de um polimorfismo silencioso do gene do receptor HTR2A, que determinam níveis de expressão gênica diferentes. Objetivos: Determinar e comparar a freqüência alélica e genotípica do polimorfismo T102C do gene do receptor de serotonina HTR2A em um grupo de 48 mulheres diagnosticadas com fibromialgia e 50 controles saudáveis. Metodologia: Para isso foi utilizada a técnica de PCR-RFLP, a partir de DNA extraído de amostras de sangue periférico obtidas do grupo controle e testes. A comparação das freqüências alélicas e genotípicas foi feita por meio de teste Chi-quadrado. Resultados: Os resultados demonstraram as freqüências alélicas obtidas para os dois grupos foram: T (46,9%) e C (53,1%). As freqüências genotípicas encontradas foram TT (22,9%); TC (47,9%) e CC (29,2%) para os pacientes com fibromialgia e TT (16%); TC (70%) e CC (14%) para os controles. Conclusões: A SFM é composta por múltiplas características que refletem em uma diversidade de causas. Nossos resultados demonstraram que o genótipo CC foi significativamente mais comum nas pacientes com a SFM, justificando parcialmente a menor resposta serotononérgica observada nesse grupo.
Donatoni, Flavia Aline Bressani. "Prospecção de SNPs por eletroforese capilar e sua identificação em genes candidatos relacionados à resistência de caprinos a nematóides gastrintestinais." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/75/75135/tde-24072012-163708/.
Повний текст джерелаThe 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.
Carolino, Maria Inês Alves de Carvalho Martins. "Influências genéticas nas características da carcaça e carne em bovinos." Doctoral thesis, Universidade de Lisboa. Faculdade de Medicina Veterinária, 2015. http://hdl.handle.net/10400.5/11653.
Повний текст джерелаA seleção das características da carcaça e da qualidade da carne, que são normalmente avaliadas post-mortem, é complicada, pelo que a utilização de marcadores moleculares pode constituir uma estratégia alternativa no melhoramento genético animal. Neste trabalho utilizaram-se 273 amostras de bovinos de 9 raças/populações provenientes do Brasil (Angus, Holstein, Simental, cruzados Pardo Suíço x Holstein, Montana, cruzados Guzerá x Holstein, Gir, Nelore e Tabapuã) e de 211 amostras de animais das raças Blanc Bleu Belge (BBB), Alentejana e Mertolenga explorados em Portugal, com o objetivo de proceder à sua caracterização genética em 20 SNP’s (CAPN316, CAPN530, CAPN4751, CAPN4753, CAPN5331, CAST257, CAST2959, LEP140, LEP252, LEP305, UASMS1, UASMS2, UASMS3, nt414, nt419, Q204X, E226X, nt821, E291X, C313Y) pertencentes aos genes da calpaína, calpastatina, leptina e miostatina. As frequências genotípicas e alélicas dos SNP’s localizados nos genes codificadores da calpaína (μ-calpaína) e calpastatina mostraram distribuições muito semelhantes às encontradas por outros autores. No gene da Leptina, as diferenças observadas entre os animais provenientes do Brasil e de Portugal, sugere que estes grupos de animais têm influências genéticas distintas (Bos indicus e Bos taurus) e que, possivelmente, possam ter sido sujeitos a processos de seleção diferentes. Na raça Mertolenga o genótipo ++ do SNP nt821 do GDF8 está associado com melhores valores genéticos para a capacidade maternal, capacidade de crescimento e longevidade produtiva, mas com piores valores genéticos para o intervalo entre parto. Os resultados obtidos demonstraram que há um efeito da congelação nas características físicas da carne (cor, força de corte, capacidade de retenção de água e pH). A tenrura da carne é influenciada pelos genótipos dos marcadores CAPN316, CAPN4751, CAST2 e LEP140, com diferenças máximas do valor da FC de 2,35Kgf, 4,96Kgf, 5,24kgF, e 9,04Kgf, respetivamente. O marcador UASMS3 tem influência na percentagem de AGM trans da carne de animais da raça Alentejana, enquanto os marcadores CAPN530 e LEP252 têm influência na percentagem de AGS C16:0 e AGCL n3 da carne de animais da raça Mertolenga. Os resultados obtidos confirmam a utilidade dos marcadores estudados no melhoramento genético e que as raças bovinas Alentejana e Mertolenga têm condições para incorporar marcadores genéticos para a qualidade da carne e da carcaça nos seus programas de seleção
ABSTRACT - The selection of the carcass characteristics and meat quality, which are normally evaluated postmortem is complicated, hence the use of molecular markers can provide an alternative strategy in animal breeding. This work was performed using a total sampling of 273 animals from 9 cattle breeds/populations from Brazil (Angus, Holstein, Simental, Pardo Suíço x Holstein crossbreed, Montana, Guzerá x Holstein crossbreed, Gir, Nelore and Tabapuã) and 211 animals from Blanc Bleu Belge (BBB) and to Portuguese - Alentejana and Mertolenga - breeds, in order to assess its genetic characterization in 20 SNP (CAPN316; CAPN530; CAPN4751; CAPN4753; CAPN5331; CAST257; CAST2959; LEP140; LEP252; LEP305; UASMS1; UASMS2; UASMS3; nt414; nt419; Q204X; E226X; nt821; E291X; C313Y) located within the calpain, calpastatin, leptin and myostatin genes. The genotypic and allelic frequencies of SNP's located within the genes coding for calpain (μ-calpain) and calpastatin showed very similar distributions to those found by other authors. In the leptin gene, the differences observed between the animals from Brazil and Portugal, suggested that these groups of animals have distinct genetic influences (Bos indicus and Bos taurus), and possibly may have been subject to different selection processes. In the breed Mertolenga the ++ genotype in SNP nt821 within GDF8 gene is associated with better genetic maternal ability, growth capacity and productive longevity values, but with worse breeding values for calving interval. The results have shown that freezing caused an effect on the physical characteristics of the meat (color, shear force, water holding capacity and pH), but with some differences among breeds. The meat tenderness is influenced by genotypes of markers CAPN316, CAPN4751, CAST2 and LEP140, with maximum differences of the FC value of 2.35 Kgf, 4.96 Kgf, 5.24 kgF and 9,04 Kgf, respectively. The UASMS3 marker influences the percentage of trans AGM of the meat of Alentejana breed, while CAPN530 and LEP252 markers influence the percentage of SFA C16: 0 and n3 LCFA of the Mertolenga meet. The results confirm the usefulness of genetic markers for genetic improvement, and show that breeds Alentejana and Mertolenga may be amenable to incorporate genetic conditions for meat and carcass quality in their programs of selection markers.
Keren, Boris. "La déficience intellectuelle : du diagnostic en puces ADN à l'identification de gènes candidats." Phd thesis, Université René Descartes - Paris V, 2013. http://tel.archives-ouvertes.fr/tel-00918306.
Повний текст джерелаLin, Kuan-chin. "Candidate Gene Expression and SNP Analyses of Toxin-Induced Dilated Cardiomyopathy in the Turkey(Meleagris gallopavo)." Thesis, Virginia Tech, 2006. http://hdl.handle.net/10919/42012.
Повний текст джерелаMaster of Science
Ribeca, Cinzia. "Association between multiple candidate genes and carcass and beef quality in Pemontese cattle." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3422007.
Повний текст джерелаIl consumatore sta diventando sempre più consapevole della qualità dei prodotti alimentari ed è disposto a pagare di più prodotti di qualità superiore. Per far fronte alle nuove e diversificate richieste dei consumatori, è necessario migliorare la produzione animale prestando particolare attenzione alla sicurezza e alla qualità. La qualità della carne è un concetto complesso che include composizione e conformazione della carcassa, assenza di rischi microbiologici, benessere animale e impatto ambientale. I caratteri che influenzano la qualità delle carni bovine hanno ereditabilità medio/bassa e inoltre misurarli è spesso difficile e costoso. Lo sviluppo delle tecnologie basate sul DNA, applicate agli animali da reddito, rappresenta un promettente strumento adatto a risolvere tali problemi. Molti marcatori presenti su geni candidati per la qualità della carne sono stati identificati e inclusi in test disponibili in commercio. Tuttavia prima di utilizzare questi test in programmi di miglioramento genetico è importante valutare se e quali effetti questi geni hanno nella popolazione in cui si vogliono utilizzare. Gli obiettivi di questa tesi sono stati: analizzare un gruppo di polimorfismi di geni candidati, al fine di fornire informazioni sulle loro frequenze alleliche nella popolazione Piemontese e valutarne l’associazione con i caratteri per la qualità della carcassa e della carne. Una pre-analisi è stata eseguita per individuare la variabilità di venti polimorfismi a singolo nucleotide (SNP) situati su quindici geni candidati per la qualità della carne. I campioni di Longissimus thoracis sono stati prelevati da 1.208 vitelloni Piemontesi, generati da 109 tori del centro d’inseminazione artificiale. Su tali campioni erano disponibili i dati fenotipici per la conformazione della carcassa e per la qualità della carne: peso della carcassa (CW), forza di taglio (SF) perdite di cottura (CL), e pH (pH24). Per ogni carattere, quarantotto campioni sono stati scelti da ciascuna delle due code della distribuzione normale del carattere stesso. Uno o più polimorfismi a singolo nucleotide (SNP) sono stati determinati nei seguenti geni candidati: calpastatina (CAST), calpaina 1 (CAPN1), B e D catepsina (CTSB, CTSD), ormone della crescita (GH), recettore dell’ormone della crescita (GHR), pro-opiomelanocortina (POMC), POU classe 1 homeobox 1 (POU1F1), recettore della melanocortina-4 (MC4R), ormone corticotropina rilasciante (CRH), proteina legante il fattore di crescita insulino-simile 3 (IGFBP3), diacilglicerolo aciltransferasi 1 (DGAT1), tireoglobulina (TG), carbossipeptidasi E (CPE) e subunità -γβdella proteina chinasi AMP-attivata (PRKAG3). Venti SNPs sono stati sottoposti a genotipizzazione mediante tecniche basate sulla reazione a catena sella polimerasi (PCR). Le frequenze alleliche, il test di equilibrio di Hardy-Weinberg (HW), così come la differenziazione genica per le popolazioni campionate (ovvero, due sub-popolazioni una per ciascuna coda della distribuzione del carattere) sono stati ottenuti utilizzando il software Genepop la versione 4.0. Un totale di sei SNPs ha presentato alleli minori con frequenza inferiore al 10%. I campioni presi delle code delle distribuzioni di ogni carattere sono stati trattati come popolazioni diverse al fine di rilevare eventuali differenze tra le frequenze alleliche. Solo il locus MC4R ha mostrato una differenza statisticamente significativa nella distribuzione allelica tra le due popolazione per il CW. I loci variabili ottenuti da questa prima analisi saranno analizzati su tutto il campione (capitolo 3). E’ stato dimostrato che sia il sistema calpaina/calpastatina (μ-calpaina, m-calpaina e calpastatina) sia un enzima lisosomiale (catepsina) influenzano alcuni caratteri legati alla qualità della carne. In questo studio cinque SNP, testati in precedenza: CAPN530 (AF_288054.2: g.4558G> A), CAPN4751 (AF_288054.2: g.6545C T>), CAST2959 (AF_159246.1: g.2959A> G), CAST2870 (AF_159246.1: g.2870A> G), CAST282 (AY_008267: g.282G> C) e CTSD (AB_055312: g.77G> A) sono stati genotipizzati su 990 vitelloni Piemontesi. Un animal model implementato con metodi Bayesiani è stato utilizzato per valutare gli effetti dei genotipi sulle variazione di pH24, di luminosità (L *), del rosso (a *), del giallo (b *), delle perdite di cottura (CL), delle perdite di gocciolamento (DL) e della forza di taglio (SF). L'associazione con la DL è stata osservata solo per CAST282 allele G e CAPN530 allele A. L’allele A di CAPN530 ha presentato associazione anche con a * e b * e l’allele A di CAST2959 con a*. Si potrebbe ipotizzare che l'effetto ottenuto, in questo studio, sul DL sia dovuto ad una variazione nella degradazione delle proteine miofibrillari che determina l'attivazione/disattivazione dei canali causando così la perdita d’acqua (capitolo 4). Gli ultimi dieci polimorfismi, risultati variabili nelle pre-analisi, sono: GH1547 (M57764: g.1547TC> G), GHR257 (AF_140284: g.257A> G), POMC254 (J00021: g.254C T>), POU1F1 208 (EF090615: g 0,208 A> G), MC4R1069 (AF_265221: g.1069C> G), CRH240 (AF_340152: g.240G> C), DGAT10343 (AJ_318490: g.10343GC> AA), TG1696 (M35823: g.1696C T>), CPE601 (AY_970663: g.601C T>), e PRKAG3 1609 (AY_692035: g.1609G> A). Tutti questi SNP sono stati genotipizzati per calcolarne le frequenze alleliche e per testare la loro associazione con CW, PH24h, L *, a *, b *, CL, DL, e SF. Tutti gli SNPs sono risultati informativi nella popolazione Piemontese, tranne CPE601. L’Analisi statistica ha dimostrato che otto dei dieci SNPs indagati avevano effetto additivo con almeno un carattere relativo alla qualità della carcassa e delle carni bovine. Alcune di queste associazioni sono presentate per la prima volta, mentre altre hanno confermato studi già effettuati (capitolo 5).
CASELLA, LAURA. "SNP ANALYSIS FOR DROUGHT-RELATED CANDIDATE GENES IN A GERMPLASM COLLECTION AND A TILLING POPULATION OF ITALIAN RICE." Doctoral thesis, Università degli Studi di Milano, 2012. http://hdl.handle.net/2434/203361.
Повний текст джерелаArnold, Brenda Elaine. "Identification Of Candidate Genes For Self-Compatibility In A Diploid Population Of Potato Derived From Parents Used In Genome Sequencing." Thesis, Virginia Tech, 2013. http://hdl.handle.net/10919/51653.
Повний текст джерелаMaster of Science
Ferreira, Leonardo Capistrano. "Genes candidatos de suscetibilidade a pr?-eclampsia: estudo de associa??o." Universidade Federal do Rio Grande do Norte, 2010. http://repositorio.ufrn.br:8080/jspui/handle/123456789/12565.
Повний текст джерелаConselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico
Preeclampsia is a multifactorial disease of unknown etiology that features with wide clinical symptoms, ranging from mild preeclampsia to severe forms, as eclampsia and HELLP syndrome. As a complex disease, preeclampsia is also influenced by genetic and environmental factors. Aiming to identify preeclampsia susceptibility genes, we genotyped a total of 22 genetic markers (single nucleotides polymorphisms SNPs) distributed in six candidates genes (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). By a case-control approach, the genotypic frequencies were compared between normotensive (control group) and preeclamptic women. The case s group was classified according to the disease clinical form in: preeclampsia, eclampsia and HELLP syndrome. As results we found the following genetic association: 1) ACVR2A and preeclampsia; 2) FLT1 and severe preeclampsia; 3) ERAP1 and eclampsia; 4) FLT1 and HELLP syndrome. When stratifying preeclampsia group according to symptoms severity (mild and severe preeclampsia) or according to the time of onset (early and late preeclampsia), it was detected that early preeclampsia is strongly associated to risk preeclampsia, eclampsia and HELLP syndrome have different genetic bases, although FLT1 gene seems to be involved in preeclampsia and HELLP syndrome pathophisiology
A pr?-ecl?mpsia ? uma doen?a multifatorial de etiologia ainda desconhecida que apresenta um amplo espectro quanto ? gravidade dos sintomas, podendo variar da forma mais branda (pr?-ecl?mpsia leve) ?s formas mais severas (ecl?mpsia e s?ndrome HELLP). Atualmente sabe-se que a pr?-ecl?mpsia ? influenciada tanto por fatores ambientais quanto por fatores gen?ticos. Com o prop?sito de identificar genes de suscetibilidade ? doen?a, genotipamos um total de 22 marcadores gen?ticos distribu?dos em seis genes candidatos (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). Utilizando uma abordagem do tipo casocontrole, comparamos as freq??ncias genot?picas entre mulheres normotensas (controles) e mulheres com pr?-ecl?mpsia (casos). O grupo dos casos foi dividido de acordo a forma cl?nica da doen?a em: pr?-ecl?mpsia, ecl?mpsia e s?ndrome HELLP. Como resultado p?de-se constatar as seguintes associa??es gen?ticas: 1) ACVR2A e pr?-ecl?mpsia; 2) FLT1 e pr?-ecl?mpsia grave; 3) ERAP1 e ecl?mpsia; 4) FLT1 e s?ndrome HELLP. Ao estratificar o grupo da pr?-ecl?mpsia de acordo com a gravidade dos sintomas (pr?-ecl?mpsia leve ou grave) ou de acordo com o tempo de in?cio dos sintomas (pr?-ecl?mpsia precoce ou tardia), comprovamos que o grupo pr?-ecl?mpsia precoce est? fortemente associado aos gen?tipos de risco. Nosso trabalho sugere que a pr?-ecl?mpsia, ecl?mpsia e s?ndrome HELLP possuem bases gen?ticas distintas, embora o gene FLT1 pare?a estar envolvido na fisiopatologia da pr?-ecl?mpsia e s?ndrome HELLP
Illa, Berenguer Eudald. "Mapatge de gens candidats implicats en la qualitat del fruit al presseguer." Doctoral thesis, Universitat de Barcelona, 2010. http://hdl.handle.net/10803/966.
Повний текст джерелаA la població 'Texas' × 'Earlygold' (T×E) s'han mapat 206 gens candidats (GCs) relacionats amb l'expressió dels caràcters de qualitat de la fruita (creixement i maduració del fruit, textura, color, contingut de sucres i àcids orgànics i aroma) i 18 gens al·lergògens de presseguer i/o ametller responsables de l'aparició de reaccions al·lèrgiques. La comparació entre la posició dels GCs mapats i la dels QTLs detectats ha permès trobar algunes co-localitzacions.
Addicionalment, l'anàlisi comparativa entre la seqüència dels marcadors mapats a Prunus amb el mapa de la maduixa diploide i la seqüència completa de la pomera mostra elements comuns. La presència de blocs sintènics facilitarà la transferència del coneixement genètic entre les tres espècies i, a la vegada, permetrà proposar un hipotètic genoma ancestral per la família Rosaceae.
RESUMEN
En los últimos años, la importante reconversión varietal ha permitido una mejor calidad, más adaptada tanto a las exigencias de la producción como de la distribución y del consumidor. La primera generación de mejoradores puso todo su énfasis en mejorar las características comerciales de la fruta como el color, la firmeza y el sabor. Sin embargo el mercado actual exige otros atributos de tipo organoléptico y nutricional, adicionales a los anteriores. Entender la base genética que controla cada uno de los caracteres determinará nuestra capacidad para obtener unos frutos más atractivos y sanos para el consumidor.
En la población 'Texas' × 'Earlygold' (T×E) se han mapeado 206 genes candidatos (GCs) relacionados con la expresión de los caracteres de calidad de la fruta (crecimiento y maduración del fruto, textura, color, contenido de azúcares y ácidos orgánicos y aroma) y 18 genes alérgenos de melocotonero y/o almendro responsables de la aparición de reacciones alérgicas. La comparación entre la posición de los GCs mapeados y la de los QTLs detectados ha permitido encontrar algunas co-localizaciones.
Adicionalmente, el análisis comparativo entre la secuencia de los marcadores mapeados a Prunus con el mapa de la fresa diploide y la secuencia completa del manzano muestra elementos comunes. La presencia de bloques sinténicos facilitará la transferencia del conocimiento genético entre las tres especies y, a la vez, permitirá proponer un hipotético genoma ancestral para la familia Rosaceae.
Fruit quality is a very important trait in breeding programs of rosaceous crops. In addition to attributes such as appearance, flavour, scent and texture, breeders focus more and more on crucial aspects like nutritional quality and the absence or significant reductions of allergenic compounds for fruit health and safety. Understanding the genetic basis that controls each character determines our ability to obtain more attractive and healthy fruit to consumers.
In the present study 206 candidate genes (CGs) associated with the expression of the characteristics of fruit quality (growth and fruit ripening, texture, colour, sugar content and organic acids and aroma) and 18 genes peach and / or almond allergens responsible for allergic reactions have been mapped in the Prunus reference map. The comparison between the position of the CGs and the QTLs previously detected allow us to find some co-localizations.
Additionally, the comparative analysis between the sequences of molecular markers that are anchored into the Prunus and Fragaria reference maps and the Malus genome sequence shows common features. The presence of syntenic blocks facilitates the transference of genetic information between the three species and, in turn, would propose a hypothetical ancestral genome for Rosaceae family.
Manrique, Carpintero Norma Constanza. "Genetic studies of candidate genes in the glycoalkaloid biosynthetic pathway of potato." Diss., Virginia Tech, 2013. http://hdl.handle.net/10919/49619.
Повний текст джерелаPh. D.
Tobouti, Priscila Lie. "Avaliação da expressão gênica da proteína aspartil secretada 2, 5 e 9 (SAP-2, SAP-5 e SAP-9) e sua correlação com a invasão epitelial por Candida albicans em modelo experimetal de estomatite protéica in vivo." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/25/25150/tde-27072011-110643/.
Повний текст джерелаDenture stomatitis (D.S.) affects the oral mucosa in contact with removable dentures, and clinically characterized by erythema with varying degrees of inflammation. This disease is considered a multifactorial etiology, with a combination of factors such as trauma, lack of hygiene, continuous use of stents, hypersensitivity to the material used for dentures, diabetes, immunosuppressive therapy and fungal infection, such as different species of Candida. The main virulence factors of the fungus are the formation of hyphae, dimorphism, phenotypic changes, adherence, persistence, synergism with bacteria, interference with the host defense system and the production of hydrolytic proteins. Among the hydrolytic proteins, the secreted aspartyl proteinase (SAP) is one of the most important in the pathogenesis of C. albicans. SAP is harmful to both the epithelial tissue and to the host\'s immune system. It is not fully understood the real penetration of the fungus in the epithelium tissue and its correlation with the presence of SAP, in denture stomatitis. This difficulty in evaluation can be justified by the intrinsic and extrinsic differences observed in many aspects, different customs, social`s habits, emotional and physiological state. Using an experimental animal model may minimize these differences and provide more standardized conditions for the experiment. In the present work, the aim was to evaluate quantitatively the gene expression of enzymes SAP-2, SAP-5 and SAP-9 of the biofilm formed in internal surface of rat`s upper acrylic plates, and to analysis microscopically, the fungal invasion in palatal epithelial tissue. 49 Wistar rats were selected, 90 days old, weighing on average 300g. They were divided into three groups: Control Group, Plate/Candida and Plate, follow by 2, 4 and 6 days of the use of the plates. The results demonstrated, in four days of use of the acrylic plate, clinical signs of inflammation in the hard palate; microscopically epithelial hyperplasia, hyperkeratinization, fungal invasion in the superficial layers of the epithelial lining, Munro`s microabscess and papillary hyperplasia; and higher percentage of neutrophils in the Plate/Candida Group, compared to Control and Plate Groups. In the period of 4 days, the relative gene expression of the SAPs-2, -5 and -9 in biofilm also showed to be higher in Plate/Candida Group, compared with the periods of 2 and 6 days. Thus, the fungal invasion in the epithelial lining of the hard palate may be correlated with high mRNA expressionn of SAPs -2, -5 e -9.
Baison, John. "Mapping and identification of disease resistance candidate genes in three Malus populations using SSRs, DArT and Infinium SNP markers and Illumina sequencing technology." University of the Western Cape, 2014. http://hdl.handle.net/11394/4678.
Повний текст джерелаApple scab, powdery mildew and woolly apple aphid are a major concern for apple breeders and producers. Control of these diseases is a significant economic and marketing priority for the South African apple industry. Application of chemicals and orchard management practices are the main methods for controlling these diseases. These diseases require an average of 15 chemical sprays per season, which leads to increased production costs for the farmer. The increased cost of chemical based control programs and demand from consumers for ‘organic apples’ grown with very little to no chemical sprays makes it important to breed for commercial apple cultivars with endogenous disease resistance genes (R-genes). The use of genetic tools (apple genetic linkage maps and the apple genome sequence) to track and introgress endogenous R-genes in breeding and to confer durable disease resistance in commercial apple cultivars will lead to a more cost effective means of disease control for apple producers. Historically, most breeding programmes rely on recurrent conventional breeding systems. This involves the crossing of apple selections showing resistance to a given disease with a susceptible elite variety. This is followed by phenotyping the progeny to identify trees exhibiting segregating field resistance. Several crosses and backcrossing are required to produce resistant varieties and to fix the resistance trait using this breeding strategy. This breeding technique is time consuming, especially in perennial tree species such as apples, which have a long juvenile period. Molecular markers have enabled the building of genetic maps, which has allowed for tracking of the inheritance of genes contributing towards the observed resistances. This has given breeders the opportunity to start the implementation of marker-assisted-breeding (MAB) and marker-assistedselection (MAS). MAB and MAS greatly reduce the time required to select for favourable genotypes, given that MAB facilitates efficient selection for inherited traits at the seedling stage. With the publication of the apple genome sequence, the identification of the genes involved in disease resistances has been made possible and this will allow researchers to venture into cisgenics for apples, which will further reduce the time required for the introgression of desirable genes into commercial cultivars. The main thrust of this research was to generate dense genetic linkage maps for three mapping populations segregating for apple scab, woolly apple aphid and powdery mildew resistance. The three mapping populations are ‘Mildew Resistant’ x ‘Golden Delicious’, ‘Russian Seedling’ x ‘Golden Delicious’ and Malus platycarpa x ‘Mildew Resistant’ and are Malus full-sib outbreed mapping populations. The generation of the genetic maps was for use in the subsequent identification candidate disease resistance QTLs/genes that can be implemented in apple cisgenics. Integrated genetic maps using SSRs, DArTs and SNP marker data were generated for all the three crosses. The integrated map of ‘Mildew Resistance’ x ‘Golden Delicious’ consists of 1, 563 markers with a total map length of 1, 298.8 cM. The ‘Russian Seedling’ x ‘Golden Delicious’ genetic map is composed of 979 markers with a total map length of 1, 729.9 cM. The Malus platycarpa x ‘Mildew Resistant’ integrated map has 616 markers and a total map length of 1,324.3 cM. Due to the fragmentation of some of the linkage groups in the ‘Russian Seedling’ x ‘Golden Delicious’ and in the Malus platycarpa x ‘Mildew Resistant’ genetic maps, a phylogenetic analysis was performed to evaluate the genetic distances between the parents of the crosses in order to understand the cause of the fragmentation of these two integrated genetic maps. QTLs were detected through the statistical correlation of the phenotypic and map data using restricted Multiple QTL Mapping (rMQM) from MapQTL® 6.0. The genome-wide LOD score minimum QTL detection thresholds were determined using 10 000 permutations for each population. The minimum QTL detection threshold for accepting a putative QTL was then determined to be 4.5 for ‘Mildew Resistant’ x ‘Golden Delicious’ and 4.6 for both the ‘Malus platycarpa’ x ‘Mildew Resistant’ and ‘Russian Seedling’ x ‘Golden Delicious’ mapping populations. A total of 17 putative QTLs were detected for the ‘Mildew Resistant’ x ‘Golden Delicious’ population, 10 putative QTLs for the Malus platycarpa x ‘Mildew Resistant’ population and nine putative QTLs for the ‘Russian Seedling’ x ‘Golden Delicious’ population were detected for the three diseases under study. The two putative QTLs for apple scab resistance detected on LG 02 of the ‘Russian Seedling’ x ‘Golden Delicious’ map coincided with the loci previously identified as encoding two apple scab resistance genes Vh2 and Vh4 on ‘Russian apple’. The QTL for apple scab resistance identified on the proximal QTL of LG 02 co-localized with SNP marker R_8936738_Lg2 on the loci where Vh4 was previously identified. The distal QTL on LG 02 shown to encode the Vh2 R-gene was linked with the SNP marker R_32981524_Lg2. With ‘Russian apple’ being known to carry a natural pyramid of R-genes for apple scab on LG 02, therefore, the ‘Russian Seedling’ used in this study was screened by a set of 14 SSR markers to determine if it was related to ‘Russian apple. The 14 SSRs produced identical alleles to those amplified by ‘Russian apple’, which means “Russian Seedling’ and ‘Russian apple’ are closely related or identical. The LG 02 pseudo-chromosome sequence was extracted from the NCBI database housing the apple genome sequence and was then used to mine for the putative R-genes within the two QTL regions. The region corresponding to the Vh2 loci, which was roughly a 600 kb region, had two clusters of ABC (PDR) disease resistance related genes. These were predicted using a full Pfam domain search and were only detected on the negative strand. The 60 kb region corresponding to the Vh4 loci comprised a cluster of LRR domains that were also detected on the negative strand using a full Pfam domain search. This 60 kb region was further analysed using Phytozome and Genome Database for Rosaceae (GDR) leading to two candidate disease resistance genes being identified. Ten consensus gene sequences were present within the 60 kb region, with only two transcripts MDP0000657246 and MDP0000128458 identified as being disease resistance related genes. The MDP0000657246 was identified on the contig MDC000294 of the Malus x domestica reference genome as being a Leucine Rich Repeat protein kinase family, which is one of the most abundant disease resistance family mainly involved in the gene-for-gene resistance mechanism. The MDP0000128458 locus was identified on contig MDC015161 as being a Ser/Thr phosphatase 7. The Ser/Thr phosphatase genes have been associated with the regulation of MAP kinase cascades that have been shown to induce the hypersensitive response (HR) in tobacco. Therefore these two genes are likely to be the loci associated with the hypersensitive response associated with the infection of apples with race 4 of apple scab, carrying the Vh4 apple scab resistance gene. Recurrent putative QTLs were detected that still need to be validated in order to be used for MAB. The ‘Russian Seedling’ x ‘Golden Delicious’ cross produced a single powdery mildew resistance QTL located on LG08 and conferring a 1:1 resistance to susceptible phenotypic segregation ratio. These results indicate that the source of the resistance thus was a single dominant resistance gene. The ‘Mildew Resistant’ x ‘Golden Delicious’ mapping population also showed two stable QTLs one for powdery mildew on LG 03, which co-segregated with SNP GD_LG03snp00866 and in addition SNP R_13071892_Lg10 was also identified to be co-segregating with the QTL for apple scab resistance on LG10. However, none of these recurrent QTLs co-localized with known genes or QTLs. For the phylogenetic analysis, re-sequenced data using the Illumina® sequencing technologies and the apple SNP chip data for ‘Russian Seedling’, ‘Mildew Resistant’, Malus platycarpa, a Chinese accession of Malus sieversii and ‘Anna’ where used to infer relatedness of the five genotypes. The Chinese accession of Malus sieversii was included in the analysis since ‘Russian Seedling’ was thought to be relatively close genetically. Whilst ‘Anna’ is known to be a low chilling cultivar of Malus x domestica (Borkh) and therefore would add in the phylogenetic placement of ‘Mildew Resistant’ and Malus platycarpa. These were sequenced to coverage of approximately 60X for ‘Russian Seedling’ and 6X for the other four genotypes. The sequence data was aligned to the reference Malus x domestica cv Golden Delicious mitochondrial genome sequence. Phylogenetic analysis was then performed using both the data from the apple SNP-chip and the aligned mitochondrial genomes. The results from both sets of data supported the putative evolutionary distances between the five genotypes. ‘Russian Seedling’ and M. sieversii were closely related, while both were genetically divergent from the closely related ‘Anna’ and ‘Golden Delicious’ commercial cultivars. This analysis however indicated that ‘Mildew Resistant’ was relatively closely related to ‘Golden Delicious’ and hence the low number of markers showing segregation distortions for the ‘Mildew Resistant’ x ‘Golden Delicious’ population in the 17 LGs of the integrated map. However, the other two mapping population exhibited a high number of markers with segregation distortions. Markers which are closely associated with disease resistance to apple scab powdery mildew and woolly apple aphid resistance will play a major role in the identification of the genes responsible for the resistances being observed. The identification of the two candidate genes for the Vh4 gene associated with apple scab resistance will be the platform from which a cisgenic programme can be implemented in the South African apple breeding program.
Avgan, Nesli. "The genetic basis of human cognition: Intelligence, learning and memory." Thesis, Queensland University of Technology, 2018. https://eprints.qut.edu.au/122903/1/Nesli_Avgan_Thesis.pdf.
Повний текст джерелаSILVA, Naiara Chaves. "Análise de aspartato protease (sap) como fator associado à virulência de linhagens de Candida albicans e Candida não-albicans." Universidade Federal de Alfenas, 2013. https://bdtd.unifal-mg.edu.br:8443/handle/tede/285.
Повний текст джерелаCandida spp. has become in recent decades, major causative agents of invasive infections, responsible for high rates of mortality and morbidity. It is believed that the secreted aspartate protease (Sap) is a factor directly associated with infection exerting decisive role in the pathogenicity of Candida spp. and that the exposure to subinibitory concentrations of antifungals may increase the production of Sap and to select resistant isolates. We analyzed isolates of Candida albicans and Candida non-albicans from cases of hospital infection. We evaluated the protein profile of the isolates of Candida spp. by SDS-PAGE. We evaluated also the susceptibility profile of the isolates against antifungals of use conventional in regimens therapeutics (fluconazole and amphotericin B) and newer antifungals that are not yet part of the hospital routine (voriconazole and caspofungin). It was determined the proteolytic activity qualitative and quantitative of Sap and metabolic activity of isolates of C. albicans and Candida non-albicans grown in the presence and absence of subinhibitory concentrations of fluconazole and amphotericin B. Was established the correlation between the tests and, finally, the expression of the SAP2 gene in C. albicans ATCC 64548 and C. krusei ATCC 6258 was evaluated. 100% of the isolates were susceptible to amphotericin B, voriconazole and caspofungin and 89.9% to fluconazole. Two isolates (7.4%) showed susceptibility dose dependent and one (3.7%) showed resistance to fluconazole. In the qualitative analysis of proteolytic activity, 77.7% of the isolates showed activity. The most isolates of C. albicans (50%) and Candida non-albicans (32%) had moderate proteolytic activity. The addition of fluconazole to culture did not promote significant changes in the proteolytic activity of the isolates patterns, while amphotericin B inhibited the growth of C. glabrata ATCC 90030 and C. krusei ATCC 6258. In quantitative analysis, all isolates were active, being that the highest activity was observed in Candida complex “psilosis” 210 (100%) and the lowest in C. albicans 257 (2.44%). The most of the C. albicans isolates (50%) were classified as weakly proteolytic, while Candida non-albicans (53%) as moderately proteolytic. The presence of antifungals in the culture significantly changed the percentage of substrate degradation of the most of isolates. The greatest difference of percentage was observed in C. lusitaniae 286, which in the presence of ¼ IC90 of amphotericin B increased 13.7x regarding to absence of the drug. The quantitative method of determining the proteolytic activity presented greater sensitivity. 63% of the isolates of Candida albicans showed high metabolic activity and 68% of Candida non-albicans had moderate activity. The higher metabolic activity was observed in C. albicans 120 (61.72%) and lowest in C krusei ATCC 6258 (2.35%). The metabolic activity of the most of the isolates was significantly altered. The major difference of percentages was observed in Candida complex “psilosis” 210, which in the presence of ½ IC50 of fluconazole showed reduction of 8x in the metabolic activity regarding to absence of the drug. There was expression of SAP2 only in C. albicans ATCC 64548, which was significantly reduced in the presence of ¼ IC90 of amphotericin B. The Sap activity may be considered a potential factor associated to virulence, once that the isolate that showed the greatest activity showed susceptibility reduced.
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES
Gameeldien, Hajirah. "The identification of candidate genes using cDNA microarray and the analysis of two SNPs of the reelin gene in a South African austistic population." Thesis, University of the Western Cape, 2009. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_3430_1297755889.
Повний текст джерелаAutism is a pervasive developmental disorder (PDD) that&rsquo
s incidence is approximately 1 in 158. It is four times more prevalent in males than females and is believed to be caused by both genetic and environmental factors. Research indicates that several genes are involved in autism and it is believed that these genes act together to produce autism. Many genes implicated in this disorder are involved with brain structure formation and brain functioning. Studies have identified the reelin (RELN) gene as necessary for proper formation of brain, which indicates that RELN abnormalities could contribute to the aetiology of several neurogenetic diseases such as schizophrenia, bipolar and autism. The aims of the study were (i) to genotype two SNPs (exonic rs3622691 and intronic rs736707) in the RELN gene using Taqman®
SNP Genotyping assays to detect association with autism in three distinct South African (SA) ethnic groups (Black, Caucasian and Mixed), and (ii) to detect candidate genes that are over and under-expressed in the samples taken from a SA Caucasian autistic group and compare those with samples taken from a healthy Caucasian group using cDNA microarray. The Taqman®
study indicated significant association for the intronic SNP, rs736707, with a p-value of 0.0009 in the total SA group. More so, the Mixed group displayed the highest significance amongst the ethnic groups, with a p-value of 0.00014. The microarray study yielded 21 genes with 95% significance in the Caucasian sample group. Most genes were hypothetical proteins and formed part of the FAM90A family. The LOC83459 showed the highest level of expression in the autistic samples, while the BTNL8 gene was shown to be highly suppressed in the control samples.
STAGNATI, LORENZO. "GENOME WIDE ASSOCIATION STUDIES TO IDENTIFY GENES FOR RESISTANCE TO FUSARIUM EAR ROT IN MAIZE." Doctoral thesis, Università Cattolica del Sacro Cuore, 2017. http://hdl.handle.net/10280/19083.
Повний текст джерелаFusarium verticillioides is the causal agent of Fusarium ear rot (FER) in maize and contaminates grains with fumonisin, a family of mycotoxins involved in several human and animal diseases. Quantitative genetic variation exists for resistance to FER and fumonisin contamination among genotypes, however, resistant maize hybrids are currently not available. The aim of this work was the identification of genetic markers associated to resistance against F. verticillioides. A bioassay was used to screen inbred lines of the maize association population for FER resistance, GWAS and candidate gene approaches were applied to identify markers. GWAS was performed using a 227K SNP matrix and resulting in 206 significant markers. Genes involved in F. verticillioides response in developing maize kernels were retrieved from a previous RNASequencing study while maize R genes were retrieved from scientific literature. Resistant (CO433 and CO441) and susceptible genotypes (CO389 and CO354) were selected to amplify and sequence candidate genes. Polymorphisms detected were used to find association with phenotypes scored using the bioassay. Four significant markers were found. Finally, the correlation between FER phenotypes scored in field experiments and bioassay phenotypes was investigated. A population of 172 RILs (CO441 x CO354), was tested. No correlation was found.
STAGNATI, LORENZO. "GENOME WIDE ASSOCIATION STUDIES TO IDENTIFY GENES FOR RESISTANCE TO FUSARIUM EAR ROT IN MAIZE." Doctoral thesis, Università Cattolica del Sacro Cuore, 2017. http://hdl.handle.net/10280/19083.
Повний текст джерелаFusarium verticillioides is the causal agent of Fusarium ear rot (FER) in maize and contaminates grains with fumonisin, a family of mycotoxins involved in several human and animal diseases. Quantitative genetic variation exists for resistance to FER and fumonisin contamination among genotypes, however, resistant maize hybrids are currently not available. The aim of this work was the identification of genetic markers associated to resistance against F. verticillioides. A bioassay was used to screen inbred lines of the maize association population for FER resistance, GWAS and candidate gene approaches were applied to identify markers. GWAS was performed using a 227K SNP matrix and resulting in 206 significant markers. Genes involved in F. verticillioides response in developing maize kernels were retrieved from a previous RNASequencing study while maize R genes were retrieved from scientific literature. Resistant (CO433 and CO441) and susceptible genotypes (CO389 and CO354) were selected to amplify and sequence candidate genes. Polymorphisms detected were used to find association with phenotypes scored using the bioassay. Four significant markers were found. Finally, the correlation between FER phenotypes scored in field experiments and bioassay phenotypes was investigated. A population of 172 RILs (CO441 x CO354), was tested. No correlation was found.
Maiga, Bakary. "Human candidate polymorphisms and malaria susceptibility in sympatric ethnic groups, The Fulani and The Dogon of Mali." Doctoral thesis, Stockholms universitet, Institutionen för molekylär biovetenskap, Wenner-Grens institut, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-99613.
Повний текст джерелаSaus, Martínez Ester. "Study of genomic variability in the genetic susceptibility to psychiatric disorders: SNPs, CNVs and miRNAs." Doctoral thesis, Universitat Pompeu Fabra, 2010. http://hdl.handle.net/10803/7221.
Повний текст джерелаEn aquesta tesi hem estudiat elements genètics que podrien contribuir potencialment en la fisiopatologia dels trastorns psiquiàtrics, centrant-nos en diferents fonts de variabilitat genòmica humana, incloent els SNPs i els CNVs, els quals poden afectar no només a gens codificants sinó també a elements reguladors, com els miRNAs. Primer, vam interrogar diferents gens candidats per trastorns psiquiàtrics solapats amb CNVs coneguts, trobant que 14 gens eren variables en el número de còpia en pacients però no en individus controls. Després, restringint l'anàlisi a trastorns afectius, vam explorar el gen GSK3β considerant SNPs així com també un CNV que se solapa parcialment amb el gen. Vam trobar la regió del promotor i de l'intró 1 del gen GSK3β associada de manera significativa amb una inferior edat d'inici del trastorn de depressió major. Finalment, hem trobat evidències que possiblement indiquen una precisa regulació post-transcriptional dels ritmes circadians per miRNAs en pacients amb trastorns afectius. Concretament, una variant en la forma precursora del miR-182 podria jugar un paper important en la fina regulació dels seus gens diana implicats en el control dels cicles de son i vigília. En general, hem aportat evidències de què diferents tipus de variació genòmica en gens neuronals o regions reguladores com els miRNAs podrien contribuir potencialment en el desenvolupament de trastorns psiquiàtrics.
Araújo, Ronyere Olegário de. "Desenvolvimento de um painel de marcadores SNP de baixa densidade e análise de desequilíbrio de ligação de polimorfismos em genes candidatos em bovinos da raça Girolando." reponame:Repositório Institucional da UnB, 2014. http://repositorio.unb.br/handle/10482/18666.
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Desenvolvimento de um painel de marcadores snp de baixa densidade e análise de desequilíbrio de ligação de polimorfismos em genes candidatos em bovinos da raça Girolando. Ronyere Olegário de Araújo e Alexandre Rodrigues Caetano – Pesquisador PhD, Embrapa Recursos Genéticos e Biotecnologia, Brasília/DF. A crescente evolução de tecnologias tornaram possível analisar o genoma de várias espécies, compreender suas funções dentro dos sistemas biológicos e, sobretudo, começar a entender os mecanismos que controlam as interações entre os genótipos e os efeitos ambientais que estão envolvidos com a expressão de características de interesse econômico. O objetivo deste trabalho foi desenvolver e validar um painel personalizado a partir de um ensaio de 384 marcadores SNP localizados em genes candidatos que afetam características de produção, doenças genéticas, e para controle de parentesco, em animais da raça Girolando. Um total de 576 animais foram testados com o painel de 384 SNPs. Os SNPs selecionados foram usados para construir um painel baseado na tecnologia GoldenGate®. Os dados brutos da genotipagem foram analisados com o Módulo de Genotipagem do programa GenomeStudio, V2010.1, utilizando parâmetros padrão para clusterização dos dados de cada SNP. Como critério de filtragem dos SNPs e das amostras foram adotados os parâmetros: Separação de Clusters, Frequência de Genotipagem e a Taxa de Genotipagem. Após aplicação destes critérios, o arquivo final ficou composto de 249 SNPs e 419 animais. Após aplicação dos critérios de filtragem, foi possível observar uma diminuição da proporção de SNPs polimórficos (53,4%). Deste painel, 72 e 47 SNPs, estavam localizados nos cromossomos BTA06 e BTA14, respectivamente, e foram utilizados para os estudos de desequilíbrio de ligação - DL (parâmetros D’ e r2) e construção de blocos de haplótipos. As estimativas dos valores de DL entre os SNPs variaram de moderada à baixa magnitude, entre si e entre os BTAs. Para o parâmetro D’, a menor estimativa foi obtida para o BTA15 (0,0954) e a maior para o BTA24 (0,5311). Por outro lado, o parâmetro r2 apresentou menor estimativa no BTA17 (0,0011) e a maior no BTA22 (0,0834). Observou-se na população estudada a existência de 32 haplótipos em seis regiões do BTA06, com frequências observadas variando de 0,011 a 0,970. O número de SNPs capturados (TagSNPs) no BTA6 variou de 2 a 4 entre as regiões estruturadas e a distância entre eles variou de 75 a 70.177 pb. Para o BTA14, a estimativa de DL revelou a existência de 13 haplótipos em 4 regiões deste cromossomo, com frequências observadas variando de 0,023 à 0,589. Em geral, o número de SNPs capturados entre as regiões estruturadas no BTA14 foi igual a 2 e a distância entre eles variou de 225 a 17.284 pb, o que reduz em 50% os esforços no processo de genotipagem para cada uma das regiões gênicas estruturadas. Os resultados deste trabalho permitiram a caracterização de estruturas de blocos de haplótipos, em regiões genômicas relacionados com características de interesse zootécnico em animais da raça Girolando e poderão ser utilizados em estudos de associação entre essas regiões com características produtivas. _______________________________________________________________________________________________ ABSTRACT
Development of a low density SNP marker panel and analysis of linkage disequilibrium of polymorphisms in candidate genes in Girolando cattle. Ronyere Olegário de Araújo and Alexandre Rodrigues Caetano – Research PhD, Embrapa Recursos Genéticos e Biotecnologia, Brasília/DF. Recent technological advances made it possible to analyze the genomes of several species, understand their function within biological systems, and above all allow for initial understanding of mechanisms that control interactions between genotypes and environmental effects that are involved in the expression of traits of economic interest. The objective of this study was to develop and validate a custom panel with 384 SNP markers located in candidate genes affecting production traits, genetic diseases, and that could be usef for paternity control in Girolando cattle. A total of 576 animals were tested with 384 SNP panel using GoldenGate® technology on a BeadExpress platform. Raw genotyping data were analyzed with the Genotyping Module in the GenomeStudio platform v2010.1 using standard parameters for clustering the data from each SNP. Data quality control and filtering was performed usingthe following parameters: Clusters separation, Genotyping Frequency and Genotyping Rate. After application of those criteria the final dataset was composed of 249 SNPs and 419 animals. After applying QC criteria, we observed a decrease in the proportion of polymorphic SNPs (53.4%). The panel contained 72 and 47 SNPs from chromosomes BTA06 and BTA14, respectively. Linkage disequilibrium studies - LD (parameter D' and r2) and construction of haplotype blocks were performed. Estimates of LD values between SNPs ranged from moderate to low magnitude among themselves and between BTAs. For the parameter D', the lowest estimate was obtained for the BTA15 (0.0954) and the highest estimated in BTA24 (0.5311). Conversely, r2 showed the lowest estimates in BTA17 (0.0011) and higher in BTA22 (0.0834). A total of 32 haplotypes in six regions of BTA06 with frequencies ranging from 0.011 to 0.970 were observed. The number of SNPs captured (TagSNPs) in BTA6 ranged from 2 to 4 between the structured regions and the distance between them ranged from 75 to 70177 pb. For BTA14, estimated LD revealed 13 haplotypes in four regions of the chromosome with observed frequencies ranging from 0.023 to 0.589. In general, the number of SNPs captured between the structured regions in BTA14 was equal to 2 (the own TagSNP and the adjacent SNP) and the distance between them ranged from 225 to 17284 pb, which could result in reductions of 50% in genotyping efforts for each gene structured regions. These results allowed the characterization of haplotype block structures in genomic regions related to traits of interest in Girolando cattle and will be useful for performing association studies between the characterized regions with production traits.
Rodríguez, Huanca Francisco Halley. "Identificación de marcadores SNP (polimorfismo de nucleótido único) asociados a la resistencia frente al virus de la necrosis pancreática infecciosa (IPN) en truchas arcoíris (Oncorhynchus mykiss)." Tesis, Universidad de Chile, 2017. http://repositorio.uchile.cl/handle/2250/143702.
Повний текст джерелаLa necrosis pancreática infecciosa (IPN) es una enfermedad viral con un impacto negativo considerable en la acuicultura de la trucha arcoíris (Oncorhynchus mykiss).. El objetivo del presente trabajo ha sido detectar las regiones genómicas que explican la resistencia al virus de la necrosis pancreática infecciosa (IPNV) en truchas arcoíris. Un total de 2.278 peces provenientes de 58 familias de medios hermanos y hermanos completos fueron desafiados con virus lPN para inducir la enfermedad. De estos fueron genotipados 768 peces: 488 resistentes y 280 susceptibles. Para el genotipado se utilizó un microarreglo Axiom®, Affymetrix® de 57 mil marcadores de tipo polimorfismo de nucleótido único (SNP). Se realizó un análisis de asociación de genoma completo utilizando los datos fenotípicos y genotípicos de los peces desafiados. Se utilizaron modelos de regresión lineal y regresión logística. La heredabilidad para la resistencia al virus IPN calculada con información de pedigrí para el rasgo tiempo de muerte fue 0,39 y para el rasgo de supervivencia binaria fue 0,32, y usando información genómica fue de 0,46 y 0,45, respectivamente. El análisis de asociación indicó que la resistencia al virus IPN es un rasgo Oligogénico. Se detectó un SNP asociado de forma significativa al rasgo tiempo de muerte en el cromosoma 5. La proporción de la varianza fenotípica y heredabilidad explicada por este marcador fue de 0,035 y 0,076, respectivamente. El Sentrin-specific protease 5 (SENP5) podría ser un gen candidato implicado en la resistencia frente a este patógeno por encontrarse en las cercanías del SNP significativo. Debido a la reducida proporción de la varianza fenotípica explicada por el marcador detectado, concluimos que la incorporación de toda la información genómica, a través de la selección genómica, podría ser el enfoque más adecuado para acelerar el progreso genético en el mejoramiento de la resistencia frente al virus IPN en trucha arcoíris.
Infectious pancreatic necrosis (IPN) is a viral disease with a considerable negative impact on rainbow trout aquaculture. The objective of the present work was to detect the genomic regions that explain the resistance to infectious pancreatic necrosis virus (IPNV) in rainbow trout (Oncorhynchus mykiss). A total of 2,278 fishes from 58 families of complete siblings were challenged with lPN virus to induce the disease. A total of 768 fishes, 488 resistant and 280 susceptible, were genotyped with an Axiom® microarray, Affymetrix® of 57,000 single nucleotide polymorphism (SNP) markers. A complete genome association analysis was performed using the phenotypic and genotypic data of the challenged fishes. Linear regression and logistic regression models were used. The heritability for IPN virus resistance calculated with pedigree information for time of death trait was 0.39 and for the binary survival trait was 0.32, and using genomic information was 0.46 and 0.45, respectively. Association analysis indicated that resistance to IPN virus is an oligogenic trait. A SNP was significantly associated with the day-of-death trait on chromosome 5. The proportion of the phenotypic variance and heritability explained by this marker was 0.035 and 0.076, respectively. Sentrin-specific protease 5 (SENP5) could be a candidate gene involved in resistance to this pathogen because it is found near to the significant SNP. Due to the reduced proportion of the phenotypic variance explained by the detected marker, we conclude that the incorporation of all genomic information, through genomic selection, could be the most appropriate approach to accelerate genetic progress in the improvement of resistance to IPN virus in rainbow trout.
Financiamiento: Proyecto CORFO-INNOVA (12PIE - 17669).
Cournu-Rebeix, Isabelle. "Génétique de la sclérose en plaques : criblage anonyme du génome et gènes candidats." Paris 6, 2003. http://www.theses.fr/2003PA066074.
Повний текст джерелаDe, Lucchi Chiara. "Improving key root traits in sugar beet: Fusarium resistance." Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424410.
Повний текст джерелаIl miglioramento genetico delle piante coltivate, basato sull’esplorazione, sull’utilizzo delle risorse genetiche e sulla ricerca genomica avanzata, è prioritario per soddisfare il fabbisogno alimentare di una popolazione mondiale in costante crescita. In particolare, l’introgressione di tratti desiderabili come la resistenza alle malattie e la maggior resa produttiva è fondamentale per garantire la sicurezza alimentare a livello globale. Per accelerare il miglioramento delle piante è essenziale predire le variazioni fenotipiche sviluppando marcatori molecolari legati ai tratti in esame. La selezione assistita da marcatori molecolari può ridurre costi e tempi di ottenimento di nuove varietà rispetto alla selezione basata solo su variazioni fenotipiche. Fra i marcatori molecolari disponibili, le mutazioni di singola base (SNP) sono i più diffusi. La barbabietola da zucchero (Beta vulgaris L.) è la seconda fonte di zucchero al mondo ed è coltivata in tutte le aree temperate. La coltura è colpita da numerosi patogeni e, fra questi, il fungo Fusarium oxysporum causa severi danni. Due differenti forme speciali di Fusarium, Fusarium oxysporum f. sp. betae (Fusarium yellows) e Fusarium oxysporum f. sp. radicis-betae (Fusarium root rot) sono state identificate in barbabietola. La malattia è caratterizzata da avvizzimento e clorosi fogliare con un progressivo deperimento delle foglie, spesso seguito dalla morte dell’intera pianta. I sintomi interni consistono in una discolorazione vascolare con imbrunimento dei fasci vascolari e, nel caso di marciume radicale, è presente un caratteristico annerimento all’esterno della radice principale. Per il controllo del patogeno, l’impiego di fungicidi e le rotazioni colturali non sono efficaci. L’introgressione di geni di resistenza dal germoplasma selvatico è ritenuta la strategia principale per la difesa della coltura. Questo richiede lo sviluppo di marcatori molecolari legati ai geni di resistenza per la selezione assistita degli individui resistenti. Gli obiettivi del lavoro di tesi sono stati i seguenti: (i) valutare la risposta a Fusarium oxysporum f. sp. betae di un’ampia collezione di linee di barbabietola da zucchero (ii) identificare linee resistenti a Fusarium oxysporum da poter utilizzare in futuri programmi di miglioramento genetico e (iii) identificare marcatori molecolari SNP (polimorfismi del DNA a singolo nucleotide) legati alla resistenza a Fusarium da utilizzare in programmi di selezione assistita da marcatori. Il primo contributo del lavoro di tesi descrive lo stato dell’arte dei risultati ottenuti nel miglioramento genetico della barbabietola da zucchero. Il contributo si focalizza sui progressi ottenuti nella resistenza a malattie con metodi di miglioramento genetici classico e con l’impiego di tecniche molecolari utilizzando come fonte di resistenza germoplasma selvatico. E’ stato inoltre considerato il contributo delle nuove tecnologie di sequenziamento e del recente rilascio del genoma di riferimento al miglioramento genetico della barbabietola. Il secondo contributo riguarda la valutazione della risposta a Fusarium oxysporum f. sp. betae di un’ampia collezione di linee di barbabietola da zucchero al fine di identificare linee resistenti e suscettibili. Per raggiungere questo scopo sono state esaminate 29 linee di barbabietola da zucchero. Le piante sono state infettate con due isolati fungini F19 e Fob220a, appartenenti a due gruppi genetici distinti, entrambi altamente patogenici. Dopo l’inoculo, per un periodo di sei settimane, è stato attribuito, per ciascuna pianta, un punteggio da 0 a 5 in base ai vari sintomi di malattia manifestati, quali: avvizzimento fogliare, clorosi e necrosi. Successivamente, le piante sono state raccolte e le radici sono state esaminate per vedere dove era presente marciume radicale, discolorazione e quali piante invece risultavano resistenti al patogeno. Il terzo contributo descrive la risposta di due diverse collezioni di germoplasma di barbabietola da zucchero a isolati di Fusarium oxysporum f. sp. betae. Linee suscettibili, provenienti da USDA-ARS (US) e UNIPD (Università di Padova, Italia), sono state inoculate con tre distinti isolati di Fusarium oxysporum f. sp. betae, l’agente causa di Fusarium yellows. Tutte le linee inoculate hanno sviluppato i sintomi della malattia, ma un grave marciume radicale è stato osservato solo nelle linee provenienti da UNIPD inoculate con isolati che non avevano mai causato marciume radicale nel germoplasma USDA. Il quarto contributo riguarda l’identificazione, su geni candidati, di marcatori molecolari SNPs associati alla resistenza alla malattia. In particolare, sono stati identificati 5 analoghi a geni di resistenza (RGA) dal lavoro di Dohm et al. 2014 e sono stati analizzati tramite analisi High Resolution Melting (HRM) su 96 campioni delle 6 linee più resistenti e più suscettibili a Fusarium. Due varianti, in 2 dei geni testati, sono risultate significativamente associate (p < 0.01) con la resistenza a Fusarium. Le varianti sono state validate attraverso sequenziamento Sanger. Il sequenziamento ha permesso di individuare due marcatori SNPs. L’associazione tra questi due SNPs e la resistenza a Fusarium è stata successivamente validata con il metodo di genotipizzazione Comparative allele-specific PCR (KASPar) su 96 campioni resistenti e 96 campioni suscettibili. La frequenza dell’allele A sia per lo SNP_Bv7_171470 e lo SNP_Bv2_043450 è risultata significativamente più alta negli individui resistenti rispetto a quelli suscettibili. Questi due SNPs potranno essere utilizzati in programmi di selezione genetica al fine di migliorare la resistenza a Fusarium in barbabietola da zucchero.
Melo, Elisabete de. "Síndrome hepatopulmonar (SHP): estudo prospectivo para avaliar a progressão da hipoxemia em pacientes candidatos ao transplante de fígado." Faculdade de Medicina de São José do Rio Preto, 2006. http://bdtd.famerp.br/handle/tede/240.
Повний текст джерелаHepatopulmonary syndrome (HPS), caused by abnormal intrapulmonary vasodilatation (IPVD), when associated with severe hypoxemia has been related to increased morbid-mortality in liver transplant candidates. The progression of hypoxemia in cirrhotic patients with IPVD is not well known. The aim of this study is to determine the probability of developing hypoxemia (Pa02 <70mmHg) in IPVD patients waiting for liver transplantation over two years. Thirty-two transplant candidates with IPVD detected by contrast-enhanced echocardiography (GI) were prospectively studied and the Pa02 of then was measured at the start and at the end of 12 and 24 months. Eleven patients without IPVD were taken as control group (GII). Paired t test showed that mean Pa02 was significantly lower at 24 months compared with basal mean at GI (78,5 ± 18,9 vs 94,05 ± 14,9; p=0,001). GI patients had significantly lower mean Pa02 at 12 months (84,6 ± 14,8 vs 95,7 ± 7,3; p=0,003) and at 24 months (78,5 ± 19,0 vs 88,7 ± 7,1; p=0,036) compared with GII patients. The Kaplan-Meier estimated ratio for the appearance of hypoxemia was approximately 10% ±5% at 12 months and 28% ± 10% at 2 years. The mean variation for Pa02 in GI patients was 4,6±13,4mmHg at 12 months and 15,5±15,5mmHg at the end of two years. There was no appearance of either hypoxemia or IPVD in GII patients. The variables: age, Child-Pugh score, smoking habit, pré-transplant Pa02 and PaC02 values did not discriminated patients who presented hypoxemia during the period of two years study. In conclusion, we demonstrate prospectively the progressive course of HPS, even on it s subclinical stage; the estimated risk for the appearance of hypoxemia in patients with IPVD was at least 30% at the end of 2 years. The identification of the early appearance of hypoxemia can lead to a better understanding of the hepatopulmonary syndrome natural history and may be helpful to optimize timing and to predict the outcomes of liver transplantation.
A síndrome hepatopulmonar (SHP) é causada por dilatação anormal da vasculatura intrapulmonar (DVP) em indivíduos com doença hepática, tendo como consequência graus variados de hipoxemia arterial. A hipoxemia grave aumenta a morbimortalidade em candidatos a transplante de fígado, e sua progressão na história natural da SHP não é bem conhecida. O objetivo deste estudo é determinar a probabilidade de desenvolvimento de hipoxemia (Pa02 <70mmHg) em pacientes com DVP em lista de espera para o transplante de fígado, em um período de dois anos. Foram estudados prospectivamente 32 pacientes com DVP (GI), detectada pela ecocardiografia com contraste e a Pa02 foi medida ao início, aos 12 e aos 24 meses do estudo. Como grupo controle (GII), foram incluídos 11 pacientes sem DVP. Os testes t de Student e exato de Fisher foram usados para comparação dos resultados. A curva de Kaplan-Meier foi empregada para verificar a probabilidade de hipoxemia nos dois grupos. A média da Pa02 aos 12 e 24 meses foi significativamente menor no GI quando comparada ao GII (84,6±14,8mmHg vs 95,7±7,3mmHg; p=0,003 e 78,5±19,0mmHg vs 88,7±7,1mmHg; p=0,036, respectivamente). No GI há evidência de que a média dos valores da Pa02 aos 24 meses é menor do que a média basal (78,5±18,9 vs 94,0±14,9; p=0,001). A razão estimada para o aparecimento da hipoxemia foi aproximadamente 10%±5% aos 12 meses e 28%±10% aos 24 meses (Curva Kaplan-Meier), para o GI. A média da variação da Pa02 no GI foi de 4,613,4mmHg aos 12 meses e de 15,515,5mmHg aos 24 meses. Nenhum paciente apresentou hipoxemia nem DVP no GII durante o período de estudo. Os parâmetros: idade, Child-Pugh, tabagismo, Pa02 e PaC02 iniciais, não identificaram os indivíduos com DVP que desenvolveram hipoxemia em dois anos de observação. Conclui-se que: Demonstramos o curso progressivo da SHP, mesmo em condições subclínicas; O risco estimado para hipoxemia em portadores de DVP foi de pelo menos 30% em dois anos; A identificação precoce do aparecimento da hipoxemia pode levar a um melhor entendimento da história natural da SHP e ser útil para a otimização da indicação do transplante de fígado e obtenção de melhores resultados.
Veneroni, Gisele Batista. "Associação de SNPs em genes candidatos e de regiões cromossômicas com espessura de gordura subcutânea em bovinos da raça Canchim." Universidade Federal de São Carlos, 2010. https://repositorio.ufscar.br/handle/ufscar/5383.
Повний текст джерелаUniversidade Federal de Minas Gerais
The Canchim has been used in beef cattle as an alternative to production intensification. Canchim (5/8 Charolais + 3/8 Zebu) and MA (offspring of Charolais bulls and 1/2 Canchim + 1/2 Zebu cows) constitute a synthetic beef cattle breed which has a good growth potential and tropical adaptation but suboptimal fat deposition under pasture. Backfat thickness (BF), total fat amount and distribution of fat have a strong impact on carcass and meat quality in beef cattle. For this reason, research has been conducted to increase fat deposition in this breed, including the search for molecular markers to identify animals with high genetic potential for fat deposition. To incorporate molecular genetics into breeding programs in beef cattle, it is essential that the association between molecular markers and production traits is evaluated in the population in which they are to be used. There are reports of many candidate genes and chromosomal segments associated with variation in fat deposition in cattle. The objective of this study was to identify SNPs associated to backfat thickness in Canchim. To achieve this objective we searched for SNPs in development and differentiation enhancing factor 1 and insulin-like growth factor binding protein 3 genes, tested the association of SNPs in the insulin-like growth factor binding protein 3, peroxisome proliferative active receptor gamma coactivator 1A, proteasome 26S subunit ATPase 1, development and differentiation enhancing factor 1, corticotropin releasing hormone and fatty acid binding protein 4 genes with fat thickness in Canchim and MA beef cattle. We also analyzed the existence of genomic regions associated with backfat thickness in these populations using a 54 K chip in extreme phenotypes. From the associated regions we selected the ones of BTA14 to validate the association by analysis of haplotypes in the whole population. The SNPs analyzed in development and differentiation enhancing factor 1 and fatty acid binding protein 4 genes were associated with variation in backfat thickness, wereas no association was found for the SNPs of the insulin-like growth factor binding protein 3, peroxisome proliferative active receptor gamma coactivator 1A, proteasome 26S subunit ATPase 1 and corticotropin releasing hormone genes. Additionally, two chromosomal regions of BTA14 were associated with the trait in this work.
A raça Canchim tem sido utilizada na bovinocultura de corte como alternativa de intensificação de produção. Grupos genéticos Canchim (5/8 Charolês + 3/8 Zebu) e MA (descendentes de touros Charoleses e de 1/2 Canchim + 1/2 Zebu) constituem essa raça sintética, que tem bom potencial de crescimento e adaptação tropical, mas deposita pouca gordura quando alimentada à pasto. Espessura de gordura subcutânea, quantidade e distribuição de gordura total têm grande impacto sobre a qualidade da carne e carcaça em gado de corte. Por este motivo, pesquisas têm sido realizadas com o objetivo de aumentar a deposição de gordura nessa raça, incluindo a busca por marcadores moleculares que auxiliem a identificação de animais com maior potencial genético para deposição de gordura. Para que a genética molecular possa ser incorporada nos programas de melhoramento de bovinos de corte, é essencial que a associação entre marcadores moleculares e características de produção seja avaliada na população em que se deseja utilizá-los. Há relatos de muitos genes candidatos e segmentos cromossômicos associados com a variação da deposição de gordura em bovinos. O objetivo desse trabalho foi identificar SNPs associados à deposição de gordura em animais da raça Canchim criados à pasto. Para tanto, foram prospectados SNPs nos genes do fator de aumento de desenvolvimento e de diferenciação 1 e proteína ligante ao fator de crescimento semelhante à insulina 3, verificada a a associação de SNPS presentes nos genes da proteína ligante do fator de crescimento semelhante à insulina 3, coativador de proliferação de peroxissomo ativo por receptor gama 1A, subunidade 26S ATPse do proteassomo, do fator de aumento de desenvolvimento e de diferenciação 1, hormônio liberador de corticotrofina e proteína ligante de ácido graxo 4 com espessura de gordura em animais Canchim e MA. Além disso, a existência de regiões genômicas associadas com espessura de gordura subcutânea foi investigada em populações Canchim e MA usando um chip de 54 K em fenótipos extremos. Dentre as regiões com associação significativa, foram eleitas aquelas presentes no BTA14 para validar a associação por análise de haplótipos na população toda. SNPs nos genes do fator de aumento de desenvolvimento e de diferenciação 1 e da proteína ligante de ácido graxo 4 foram associados à variação de espessura de gordura subcutânea, enquanto que nenhuma associação foi observada para os SNPs dos genes proteína ligante ao fator de crescimento 7 semelhante à insulina 3, coativador de proliferação de peroxissomo ativo por receptor gama 1A, subunidade 26S ATPse do proteassomo e hormônio liberador de corticotrofina. Também foram associadas com a característica avaliada nesse trabalho, duas regiões cromossômicas do BTA14.
Barros, Monteiro Janice. "Déterminants génétiques de la résistance à l'insuline et du diabète sucré : exploration par SNP (single nucleotide polymorphism) de la calpai͏̈ne-10 et d'autres gènes candidats dans la population amazonienne du Brésil." Montpellier 1, 2004. http://www.theses.fr/2004MON1T016.
Повний текст джерелаSouza, Manuela Barbosa Rodrigues de. "Análise genética de novos potenciais polimorfismos de risco em Transtornos do Humor e utilização de abordagens computacionais em busca de genes candidatos a Doença de Alzheimer." Universidade Federal de Pernambuco, 2013. https://repositorio.ufpe.br/handle/123456789/13412.
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FACEPE
Doenças neuropsiquiátricas afetam cerca de 450 milhões de pessoas em todo mundo e dentre estas patologias os Transtornos do Humor (TH) e Doença de Alzheimer (DA) são as mais comuns. Em relação à sua etiologia as doenças neuropsiquiátricas são resultados de variações em um grupo de genes e de fatores ambientais. Pesquisas recentes vêm mostrando associação positiva entre variações genéticas em genes envolvidos nos sistemas de neurotransmissores com o desenvolvimento de doenças neuropsiquiátricas. Por isso, os estudos sobre polimorfismos genéticos, nas doenças psiquiátricas são de grande importância para a compreensão dos mecanismos moleculares envolvidos e podem auxiliar no diagnóstico das mesmas. Neste cenário, mutações encontradas no DNA têm sido amplamente estudadas, a fim de elucidar aspectos genéticos relacionados às neuropatologias. Os polimorfismos do tipo SNPs (Polimorfismo de Base Única) e INDELs (inserções e deleções de fragmentos de DNA) têm se destacado devido as fortes associações com os TH e DA. Diversos métodos de biologia molecular têm sido utilizados para detectar estes tipos de polimorfismos, os experimentos moleculares geram grande quantidade de dados a serem analisados, fazendo-se necessário a utilização de ferramentas computacionais para se extrair informações a partir desses dados gerados. Assim, o objetivo desse estudo foi o uso de bioinformática e de genotipagem em larga escala na busca de novos polimorfismos genético em TH e aplicação de ferramentas computacionais em banco de dados de GWAS referente à DA. Para obter os resultados referentes à TH optamos por utilizar o software CLCbio Workbench®, sequenciamento automatizado mega Bace 1000 e experimentos preliminares da técnica de DNA pooling. Já para a DA, utilizamos o teste de associação e método de regressão linear do software PLINK e o pacote genetics da linguagem de programação R, para correlacionar os níveis da proteína βamiloide no plasma e líquido cefalorraquidiano e um total de 598.821 SNPs, ambos os dados oriundos do banco de dados ADNI (Alzheimer’s Disease Neuroimaging Initiative). Após uma sequência de passos in silico identificamos variações anteriormente descritas e novos polimorfismos candidatos à fisiopatologia dos TH, na fase de validação dessas variações, por meio de sequenciamento, falsos positivos foram frequentemente identificados, sendo descartados após a verificação na cadeia complementar. Apenas o SNP rs14068, localizado no exon 2 do gene GABRA5 foi validado em amostras de pacientes com TH. No estudo referente à DA, 5 SNPs nas regiões dos genes TOMM40, PAMR1, TRIM9 e CCDC112 e 3 SNPs em regiões de intron atingiram associação significativa, levantando a possibilidade de estejam relacionados a fisiopatologia da DA.
Johnson, Andrew Danner. "Search for functional alleles in the human genome with focus on cardiovascular disease candidate genes." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1187018497.
Повний текст джерелаGill, Jennifer. "Assessment of genetic markers for the improvement of beef quality and consistency." Thesis, University of Edinburgh, 2010. http://hdl.handle.net/1842/4711.
Повний текст джерелаMekbib, SB, TJC Regnier, and L. Korsten. "Efficacy and mode of action of yeast antagonists for control of Penicillium digitatum in oranges." Tropical Plant Pathology, 2011. http://encore.tut.ac.za/iii/cpro/DigitalItemViewPage.external?sp=1000688.
Повний текст джерелаNaderi, Darbaghshahi Saeid [Verfasser]. "Exploring the potential of machine learning methods and selection signature analyses for the estimation of genomic breeding values, the estimation of SNP effects and the identification of possible candidate genes in dairy cattle / Saeid Naderi Darbaghshahi." Gießen : Universitätsbibliothek, 2019. http://d-nb.info/1177678365/34.
Повний текст джерелаOussalah, Abderrahim. "Déterminants génétiques du métabolisme des monocarbones : approche gène candidat dans deux populations ambulatoires et étude d'association avec la maladie de Crohn." Thesis, Nancy 1, 2011. http://www.theses.fr/2011NAN10088/document.
Повний текст джерелаGenome wide association studies demonstrated an association between plasma vitamin B12 and FUT2 (fucosyltransferase 2). It has been suggested that the association between FUT2 and low plasma vitamin B12 level may be the consequence of an increased susceptibility to Helicobacter pylori (H. pylori) infection. We evaluated the association between FUT2 461G>A polymorphism and vitamin B12 and investigated whether the influence of FUT2 on H. pylori serology is part of the mechanisms that underlie this association, in two populations from Europe and West Africa. In this study we confirmed the influence of FUT2 461 G>A polymorphism on plasma vitamin B12 level and found no influence of H. pylori serological status on this association, at least in ambulatory subjects from Europe and West Africa. The magnitude of the association between homocysteine metabolism and inflammatory bowel diseases (IBD) is unknown while the association between hyperhomocysteinemia and thrombosis remains controversial in IBD. We conducted a systematic review of the literature and performed a meta-analysis to examine these issues. The risk of hyperhomocysteinemia is significantly higher in IBD patients when compared to controls. The risk assessment of hyperhomocysteinemia-related thrombosis in IBD requires further investigation. Deficient folate status is associated with a higher impact of MTHFR C677T polymorphism on IBD risk. Hyperhomocysteinemia and several gene variants of one-carbon metabolism are associated with the occurrence and severity of Crohn's disease (CD). Hyperhomocysteinemia results in part from methyl donors deficiency - which is frequent in patients with CD - and increases the activity of superoxide dismutase (SOD), a validated and reliable marker of oxidative stress. We designed a 384-plex GoldenGate oligo pool assay for the comprehensive one-carbon metabolism genotyping using Illumina platform. The aims of this study were (i) to assess genetic determinants of plasma homocysteine and superoxide dismutase (SOD) levels in patients with IBD and (ii) to look for single nucleotide polymorphisms (SNPs) associated with age at CD onset. Two SNPs were associated with plasma homocysteine level (MTHFR, AHCY). Five SNPs were independently associated with plasma SOD level. Of these five SNPs, three are related to vitamin B12 (FUT2, CUBN, and TCN2), one is related to folate (GGH), and the last one to homocysteine (AHCY). In addition, we identified two SNPs associated with early CD onset (CHDH, ABCB1)
Avogbé, Patrice Hodonou. "Déterminants génétiques de la réparation d'ADN et du métabolisme des monocarbones : approche gènes candidats et études d'association avec le risque de carcinome hépatocellulaire et le cancer du poumon." Thesis, Université de Lorraine, 2012. http://www.theses.fr/2012LORR0201/document.
Повний текст джерелаWorldwide, hepatocellular carcinoma (HCC) and lung cancer (LC) represent a major public health problem. Previous studies reported associations between single nucleotide polymorphisms (SNPs) in DNA repair or monocarbon metabolism (MCM) genes and LC or HCC risk. However, influences of these SNPs on LC or HCC risk have not been comprehensively evaluated. Our study aimed to identify potential interesting DNA repair and MCM gene variants associated with HCC risk in cirrhotic Caucasians. To this end, we used the Illumina's GoldenGate® technology and performed a comprehensive investigation of 384 SNPs on 94 DNA repair genes and 384 SNPs on 77 MCM genes. This comprehensive SNP-array fine mapping approach was also used to identify potential interesting DNA repair gene variants associated with susceptibility to LC in Caucasians. Our results showed that six variants on BRIP1 gene (BRCA1 interacting protein C-terminal helicase: rs4986763, rs4986764, rs1557720, rs4986765, rs2191248, and rs11871785) were significantly associated with HCC risk in patients carrying hepatitis virus-associated cirrhosis under an additive genetic model. After false discovery rate (FDR) correction for multiple testing, BRIP1 rs4986764 and rs1557720 displayed statistically significant associations with HCC risk. Two SNPs on GGH gene were associated with HCC risk in patients carrying non viral cirrhosis. In our study, only POLL rs3730477 was associated with an increased LC risk under a recessive genetic model (OR=2.81, 95% CI 1.51?5.24). Lastly, we evaluated hematologic changes and levels of DNA adducts, 8-oxodG, dU, and m5dC in Cotonou's motorbike taxi drivers (MBTD) - exposed to air pollution by benzene and polycyclic aromatic hydrocarbons (PAHs) - compared to unexposed controls. Compared to controls, MBTD displayed a significant decrease in the number of white blood cells, lymphocytes, neutrophils and platelets, with the formation of an unknow DNA adduct, whereas uracil misincorporation and 8-oxodG levels in DNA were significantly increased. In conclusion, we identified six variants on BRIP1 gene and two variants on GGH gene that are associated with susceptibility to HCC. In addition, POLL rs3730477 variant was associated with susceptibility to LC. Replication of these findings in independent cohorts is warranted
Pönisch, Roman. "Isolierung, Identifizierung und funktionelle Charakterisierung der Metallo-Aminopeptidase CaApe2 — Ein experimenteller Beitrag zur Beurteilung des kariogenen Potentials von Candida albicans." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2009. http://nbn-resolving.de/urn:nbn:de:bsz:14-ds-1230898959618-82212.
Повний текст джерелаThe proteolytic potential of the pathogenic fungus Candida albicans was evaluated by the identification and functional characterization of a peptidolytic enzyme isolated from the cell wall of the microorganism. Determination of basic structural and kinetic data identified a neutral arginine/alanine/leucine-specific metallo-aminopeptidase of unknown function termed CaApe2 which is encoded by ORF CaO19.5197 (GenBank RefSeq XM_705313). Mass spectrometric tryptic peptide analysis and N-terminal protein sequencing revealed serine-88 to represent the N-terminus of CaApe2. The isolated CaApe2 protein shares equally high similarity with the gene products ScAap1 and ScApe2 suggesting duplication of a phylogenetically ancient precursor gene in Saccharomyces cerevisiae. The observed failure to cleave human type-I and type-IV collagen in vitro challenges a direct role secreted CaApe2 might play in the degradation of extracellular matrix components during host colonization, but does not exclude per se a contribution of the aminopeptidase to the pathogenicity of C. albicans
Semlin, Lydia. "Vergleichende Bewertung vom Typ der Hemmer der sekretorischen Aspartatproteinasen (Sap) im Candida-Keratinozyten-Adhärenz Assay und im Hautkonstrukt gestützten Modell der lokalisierten Kandidose." Diss., Ludwig-Maximilians-Universität München, 2013. http://nbn-resolving.de/urn:nbn:de:bvb:19-157851.
Повний текст джерелаPönisch, Roman. "Isolierung, Identifizierung und funktionelle Charakterisierung der Metallo-Aminopeptidase CaApe2 — Ein experimenteller Beitrag zur Beurteilung des kariogenen Potentials von Candida albicans." Doctoral thesis, Technische Universität Dresden, 2008. https://tud.qucosa.de/id/qucosa%3A23915.
Повний текст джерелаThe proteolytic potential of the pathogenic fungus Candida albicans was evaluated by the identification and functional characterization of a peptidolytic enzyme isolated from the cell wall of the microorganism. Determination of basic structural and kinetic data identified a neutral arginine/alanine/leucine-specific metallo-aminopeptidase of unknown function termed CaApe2 which is encoded by ORF CaO19.5197 (GenBank RefSeq XM_705313). Mass spectrometric tryptic peptide analysis and N-terminal protein sequencing revealed serine-88 to represent the N-terminus of CaApe2. The isolated CaApe2 protein shares equally high similarity with the gene products ScAap1 and ScApe2 suggesting duplication of a phylogenetically ancient precursor gene in Saccharomyces cerevisiae. The observed failure to cleave human type-I and type-IV collagen in vitro challenges a direct role secreted CaApe2 might play in the degradation of extracellular matrix components during host colonization, but does not exclude per se a contribution of the aminopeptidase to the pathogenicity of C. albicans.
Semlin, Lydia [Verfasser], and Claudia [Akademischer Betreuer] Borelli. "Vergleichende Bewertung vom Typ der Hemmer der sekretorischen Aspartatproteinasen (Sap) im Candida-Keratinozyten-Adhärenz Assay und im Hautkonstrukt gestützten Modell der lokalisierten Kandidose / Lydia Semlin. Betreuer: Claudia Borelli." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2013. http://d-nb.info/1036836797/34.
Повний текст джерелаMuiños, Gimeno Margarita. "Analysis of genetic variation in microrna-mediated regulation and the susceptibility to anxiety disorders." Doctoral thesis, Universitat Pompeu Fabra, 2009. http://hdl.handle.net/10803/7192.
Повний текст джерелаHem investigat la variació genètica a la regulació mediada per microRNAs com a factors de susceptibilitat pels trastorns d'ansietat seguint dues aproximacions diferents. Primer vam estudiar dues isoformes del gen candidat NTRK3 mitjançant la reseqüenciació dels seus diferents 3'UTRs a pacients de pànic (TP), a pacients amb trastorn obsessiu compulsiu (TOC) i a controls. Dues variants rares que alteren la regulació mediada per microRNAs foren identificades per TP. D'altra banda, es trobà associació d'un SNP comú amb el subtipus acumulador de TOC. A més, també hem estudiat la possible implicació dels microRNAs als trastorns d'ansietat. Conseqüentment, hem analitzat l'organització genòmica i la variació genètica a regions que contenen microRNAs per construir un panell d'SNPs per fer anàlisis d'associació. Els estudis cas-control van revelar algunes associacions. Tanmateix, val la pena destacar les associacions del miR-22 i el miR-488 amb TP; dos microRNAs pels quals assajos funcionals i anàlisis de transcriptoma després de la seva sobreexpressió han mostrat una repressió significativa d'un grup de gens implicats en vies fisiològiques lligades al desenvolupament del TP.
Fonseca, Casals Francina. "Pharmacogenomic study of oppioid addicts in methadone treatment / Francina Fonseca Casals." Doctoral thesis, Universitat Pompeu Fabra, 2010. http://hdl.handle.net/10803/7234.
Повний текст джерелаThe study recruited opioid dependence patients (DSM-IV criteria) from a MMT community program. Patients were clinically assessed and blood samples were obtained in order to evaluate methadone plasma concentrations of (R,S)-, (R) and (S)- methadone. Allelic variants of genes encoding the following proteins were assessed: BDNF, OPRM1, MYOCD, mGluR6, mGluR8, CRY1, NR4A2, 1q31.2 (rs965972), 2q21.2 (rs1867898), CYP3A5, CYP2D6, CYP2B6, CYP2C9, CYP2C19 and P-glycoprotein. Responders and non-responders were defined by means of illicit opioid consumption detected in random urinalyses.
Differences in response status were found depending on different single nucleotide polymorphisms (SNPs of genes encoding for BDNF, MYOCD and GRM6. The CYP2D6 metabolizing phenotype was associated with response to MMT, and also with methadone dosage requirement and methadone plasma concentrations.
Els programes de manteniment amb metadona (PMM) han demostrat eficàcia en el tractament del trastorn per dependència d'opiacis malgrat la persistència de pacients amb mala resposta al tractament. L'estudi dels factors farmacodinàmics i farmacocinètics implicats en la resposta terapèutica ofereix resultats controvertits. L'objectiu de la tesi doctoral que es presenta és estudiar els factors farmacodinàmics i farmacocinètics de la metadona que poden estar implicats en l'eficàcia del tractament. S'han inclòs pacients ambulatoris diagnosticats de trastorn per dependència d'opiacis (segons criteris DSM-IV) en PMM. Els pacients s'han avaluat a nivell clínic i s'han obtingut mostres de sang per a l'estudi de les concentracions plasmàtiques de (R,S)-, (R) i (S)- metadona. S'han estudiat també les variants al·lèliques dels gens que codifiquen per: BDNF, OPRM1, MYOCD, mGluR6, mGluR8, CRY1, NR4A2, 1q31.2 (rs965972), 2q21.2 (rs1867898), CYP3A5, CYP2D6, CYP2B6, CYP2C9, CYP2C19 i P-glicoproteïna. La mostra s'ha dividit en responedors i no responedors en funció del nombre de controls d'orina positius per a heroïna en analítiques realitzades de forma aleatòria.
Es van detectar diferències en resposta al tractament segons les variants dels gens codificants per a BDNF, MYOCD i GRM6. També es va detectar una associació entre el fenotip de CYP2D6, la resposta al tractament, la dosi requerida de metadona i les concentracions plasmàtiques.
Nwafor, Chinedu Charles. "Genetic investigation of seed development in grapevine." Doctoral thesis, 2015. http://hdl.handle.net/10449/33760.
Повний текст джерелаEyendja, christian. "Bases génétiques de la sténose valvulaire aortique calcifiée." Thèse, 2010. http://hdl.handle.net/1866/6041.
Повний текст джерелаAortic valve stenosis (AVS) is a valvular heart disease caused by calcification leading to incomplete opening of the aortic valve. Calcification of valve leaflets associated with aging is the most common cause of AVS. AVS pathogenesis involves lipoprotein deposits, chronic inflammation and calcification of the aortic valve leaflets. Our study aims to identify genes associated with AVS in order to better understand its mechanisms and potentially identify new therapeutic targets. We recruited 190 cases with AVS of different severity and 192 controls matched for age and sex. Then we conducted a candidate gene association study using single nucleotide polymorphisms (SNPs). The candidate genes selected include: (1) those with polymorphisms putatively implicated in previous genetic association studies of AVS (APOB, APOE, ESR1, PTH and VDR); (2) those with validated associations to inflammatory diseases (IL-10, TNFAIP3) or lipid metabolism (LDLR ,PCSK9) in genome-wide association studies and, (3) genes impliated in AVS pathogenesis from studies with animal models and thought to be involved in calcification (BMP2, CCR5, CTGF, LRP5, MXS2, WNT3); tissue remodeling (CTSS, MMP9) or lipid metabolism (SMPD1). For the first two categories of genes, we tested the SNPs reported to be associated in the literature and, in the third category we used a tag-SNP approach which consists of selecting a subset of SNPs to capture variability in the target region. Finally, 81 SNPs in 18 genes were tested. We found a nominal association of BMP2 (OR=1.55, CI: 1.14 – 2.10, p=0.004) and LRP5 (OR=1.47, CI: 1.06 – 2.03, p=0.023) with presence of AVS after adjustment for coronary heart disease. The genes BMP2 and LRP5, which are known to be involved in calcification based on animal models, are associated with AVS. The result of the current study should be validated in a larger independent cohort in the near future and then, it could also be extended to the study of other genes.
Lin, Ya-Ping, and 林亞平. "Development of Genome-Wide High-Density SNP Markers in Solanum pimpinellifolium and Investigation of Candidate Loci of Stamen Length in Tomato." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/qxcg77.
Повний текст джерела國立臺灣大學
農藝學研究所
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Botanists have been fascinated by the genetic mechanism of heterostyly since Darwin’s theory of evolution. It was believed that the genes controlling self-incompatibility and floral morphology were linked tightly, so-called S-locus. According to the classical evolutionary studies, when a plant evolved from outcrossing to selfing, it was necessary to lose self-incompatibility and then adjusted the positions of male and female floral organs through the rare recombination within the S-locus. However, new evidence suggested that homostyly resulted from hemizygote rather than the rare recombination. In agriculture, studying the genetic mechanism of self-incompatibility and heterostyly can understand the changes of crop genomes under the selection forces during domestication processes. Additionally, it can accelerate the production of hybrid seeds or ensure the pollination to increase yield. Solanum pimpinellifolium is a wild tomato originated from the coastal region of Peru and Ecuador. It serves as an important germplasm in tomato breeding programs because it displays many resistant traits and can freely cross to cultivated tomatoes. Previous studies classified this species as complete or near complete allogamy, complete autogamy and intermediate type based on its mating system. In addition, allogamous accessions displayed higher genetic diversity and more exsertion of stigma than autogamous ones. Because S. pimpinellifolium contains the variations of outcrossing rate and floral morphology within its own species, it could be an ideal material to study the genetic mechanism of self-incompatibility and heterostyly. Nowadays, molecular markers have been applied to crop breeding extensively. Accompanying by the cost down of next generation sequencing, the development of genome-wide high-density markers for germplasm becomes essential in breeding programs. In this research, we performed the PstI-digested associated DNA sequencing for 99 accessions of S. pimpinellifolium, resulting in 24,330 SNPs. The coverage extended to 12,790 genes, and a total of 7,383 genes were targeted directly by 16,365 SNPs. Besides, the sequencing regions and the annotated genes presented similar distributions through each chromosome. This suggested that PstI-digested associated DNA sequencing was an appropriate strategy to investigate candidate genes. This collection was divided into three subpopulations of single-ancestral genome and four subpopulations of mix-ancestral genome by ADMIXTURE. Principle component analysis, pairwise Fst and AMOVA all supported the subpopulations, implying this set of high-density markers was capable to estimate the subpopulations stably. Moreover, the overall LD decay was within 18 Kb, suggesting a fine resolution in genome-wide association study even to a single-gene level. However, to achieve such fine resolution, at least 50,000 markers were required. Three candidate loci controlling stamen length were identified via the mixed linear model in genome-wide association study of 98 S. pimpinellifolium accessions, but all three loci presented high false discovery rate. Since the power and false positive rate of genome-wide association study depend on the sample size of a studying population, we suggest two approaches to increase sample size. One is to increasing samples in each subpopulation evenly. This approach can potentially make rare alleles to common alleles by increasing the allele frequency. The other is to sampling more individuals in the northern Peru because the accessions in the northern Peru present more genetic diversity. This approach can also increase both rare alleles and common alleles. On the other hand, following the previous studies, stamen2.2 and stamen2.3 were located in the downstream interval next to style2.1. We performed a RNA sequencing experiment of M82 and TA3178. TA3178 is an introgression line of M82 and contains a segment of Solanum pennellii near style2.1. We identified this introgression region by comparing the difference of SNPs between these two lines. Afterwards, following the previous work in our team, we screened 18 candidate genes from marker cLED19A24 to CT9 by comparing the fold change and cDNA polymorphism between M82 and TA3178. This result suggested that Solyc02g087960.2, Solyc02g087970.1 and Solyc02g088070.2 should be the candidates of stamen2.2 and stamen2.3.
LO, PRESTI Anna Rita. "CANDIDATE GENE ASSOCIATION ANALYSIS IN RESPIRATORY DISEASES – THE GEIRD PROJECT." Doctoral thesis, 2012. http://hdl.handle.net/11562/393934.
Повний текст джерелаAsthma, Rhinitis and Chronic Obstructive Pulmonary Disease (COPD) are common respiratory diseases worldwide, characterized by systemic and local chronic inflammation of the airways and increasing bronchial responsiveness, that contribute substantially to morbidity and mortality in adults living in the developed world. They are complex and heterogeneous diseases resulting from interaction between genetic and environmental factors. Several genes, each with a small effect, are likely involved in the development of these diseases and might contribute to the phenotype variability according to environmental exposure. Many candidate genes are reported in the literature data in association to one, two or all three diseases, even if results of these studies are not always consistent. This work is a part of the GEIRD (Gene Environment Interaction Respiratory Diseases) project, a population-based case-control study, aimed to elucidate the role of environment and genetic factors in the occurrence, persistence, severity and control of inflammatory airway diseases. In particular, the PhD thesis project here presented is focused on candidate gene association analysis in a large and accurately defined series of Italian subjects, in order to identify genes involved in the susceptibility to Asthma, Rhinitis and COPD and susceptibility genes that may be common to all the three diseases. A total of 1175 individuals, including subjects affected by asthma, rhinitis and COPD (cases) and unaffected by airways inflammatory diseases (controls), have been enrolled. A DNA bank, from all the subjects participating to the study, was created. Candidate genes for the study was chosen on the basis of the analysis of literature data, considering single genes studies, GWAS and meta-analyses. A group of 69 genes, involved in pathways related to the all three studied diseases, as inflammation, innate immunity and immunoregulation, oxidative stress and metabolism of xenobiotics, regulation of the protease-antiprotease equilibrium, and tissue remodelling, were selected. A panel of 384 Tag SNPs, representative of the candidate genes, was genotyped by a customized multiplexed GoldenGate Genotyping assay (Illumina). A single-locus and multi-locus association analysis was conducted to evaluate association with the following phenotypes: current asthma, past asthma, total asthma (current and past), current atopic asthma, allergic rhinitis, non allergic rhinitis, total rhinitis (allergic and non allergic), and subjects presenting with chronic respiratory symptoms. A significant association (p<0,01) was observed between IL-13 (5q31) and past asthma, both SPINK-5 (5q31-q32) and GSTP-1 (11q13) and non-atopic rhinitis, NOS-1 (12q24.2-24.31) and chronic respiratory symptoms. More interestingly, polymorphisms in IL1RL-2 gene (2q12) were found associated to multiple phenotypes (current asthma, current atopic asthma, chronic respiratory symptoms, non atopic rhinitis, and total rhinitis) suggesting a possible role for this gene in all the studied respiratory diseases. Therefore, we decide to deepen the study performing an haplotype association analysis for these genes. This additional study confirmed the single-locus associations found and the involvement of IL-13, SPINK-5, GSTP-1, NOS-1 and IL1RL-2 genes in the susceptibility to inflammatory respiratory diseases. The results of this study can be used in the future for the development of new molecular genetic tests for the early identification of subgroups of patients who need a specific therapy or having an individual susceptibility to specific environmental risk factors, by the determination of their genetic risk profile. In the post-genomic era, searching and identification of genes associated with complex diseases are still one of the main challenges for dissecting human complex diseases. A better understanding of pathogenic mechanisms and the identification of molecular markers of disease and genomic profiles, associated to particular diseases phenotypes and clinical outcomes, will be offering new targets for pharmacological therapy and will be opening the way to possible future applications in disease treatment and prevention, by a more accurate prognosis determination and a more specific or even individual therapies.
Hadjigol, S. "Evidence for natural selection acting on genes affecting lignin and cellulose biosynthesis in Eucalyptus globulus." Thesis, 2012. https://eprints.utas.edu.au/12930/2/Whole_thesis_030112.pdf.
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