Tesis sobre el tema "Single nucleotide polymorphisms"
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Sauer, Sascha. "Technology development for genotyping single nucleotide polymorphisms". [S.l.] : [s.n.], 2001. http://www.diss.fu-berlin.de/2002/102/index.html.
Texto completoLau, Chi Chiu. "Hepatitis B virus and single nucleotide polymorphisms". HKBU Institutional Repository, 2007. http://repository.hkbu.edu.hk/etd_ra/810.
Texto completoSchwonbeck, Susanne. "Analyse von Single-Nucleotide-Polymorphisms an Glas-Oberflächen". [S.l. : s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=974115568.
Texto completoSchwonbeck, Susanne. "Analyse von Single Nucleotide Polymorphisms an Glas-Oberflächen". Phd thesis, Universität Potsdam, 2004. http://opus.kobv.de/ubp/volltexte/2005/221/.
Texto completoDie Versuche am faseroptischen Affinitätssensor zeigten, dass DNA-DNA-Hybride sowohl von Oligonukleotiden als auch von PCR-Produkten ein typisches Dissoziationsverhalten aufweisen, wobei fehlgepaarte Hybride eine signifikant schnellere Dissoziation zeigen als perfekt passende Hybride. Dieser Geschwindigkeitsunterschied lässt sich durch den Vergleich der jeweiligen kinetischen Geschwindigkeitskonstanten kD quantitativ erfassen.
Da die Kopplung des Analyten an der Chipoberfläche sowie die Hybridisierungs- und Dissoziationsparameter essentiell für die Methodenentwicklung war, wurden die Parameter für ein optimales Spotting und die Immobilisierung von PCR-Produkten ermittelt. Getestet wurden die affine Kopplung von biotinylierten PCR-Produkten an Streptavidin-, Avidin- und NeutrAvidin-Oberflächen sowie die kovalente Bindung von phosphorylierten Amplifikaten mit der EDC/Methylimidazol-Methode. Die besten Ergebnisse sowohl in Spotform und -homogenität als auch im Signal/Rausch-Verhältnis wurden an NeutrAvidin-Oberflächen erreicht.
Für die Etablierung der Mikroarray-Genotypisierungsmethode durch kinetische Analyse nach einem Hybridisierungsexperiment wurden Sondenlänge, Puffersystem, Spotting-Konzentration des Analyten sowie Temperatur optimiert. Das Analysensystem erlaubte es, PCR-Produkte mit einer Konzentration von 250 ng/µl in einem HEPES-EDTA-NaCl-Puffer auf mit NeutrAvidin beschichtete Glasträger zu spotten. In den anschließenden Hybridisierungs- und Dissoziationsexperimenten bei 30 °C konnte die Diskriminierung von homocygoter Wildtyp- und homocygoter Mutanten- sowie heterocygoter DNA am Beispiel von Oligonukleotid-Hybriden erreicht werden.
In einer Gruppe von 24 homocygoten Patienten wurde ein Polymorphismus im SULT1A1-Gen analysiert. Sowohl durch kinetische Auswertung als auch mit der Analyse der Fluoreszenzintensität wurde der Genotyp der Proben identifiziert. Die Ergebnisse wurden mit dem Referenzverfahren, der Restriktionschnittstellenanalyse (PCR-RFLP) validiert. Lediglich ein Genotyp wurde falsch bestimmt, die Genauigkeit lag bei 96%.
In einer Gruppe von 44 Patienten wurde der Genotyp eines SNP in der Adiponectin-Promotor-Region untersucht. Nach Vergleich der Analysenergebnisse mit denen eines Referenzverfahrens konnten lediglich 14 der untersuchten Genotypen bestätigt werden. Ursache für die unzureichende Genauigkeit der Methode war vor allem das schlechte Signal/Rausch-Verhältnis.
Zusammenfassend kann gesagt werden, dass das in dieser Arbeit entwickelte Analysesystem für die Genotypisierung von Einzelpunktmutationen geeignet ist, homocygote Patientenproben zuverlässig zu analysieren. Prinzipiell ist das auch bei heterocygoter DNA möglich. Da nach aktuellem Kenntnisstand eine SNP-Analysemethode an immobilisierten PCR-Produkten noch nicht veröffentlicht wurde, stellt das hier entwickelte Verfahren eine Alternative zu bisher bekannten Mikroarray-Verfahren dar. Als besonders vorteilhaft erweist sich der reverse Ansatz der Methode.
Der hier vorgestellte Ansatz ist eine kostengünstigere und weniger hoch
dimensionierte Lösung für Fragestellungen beispielsweise in der Ernährungswissenschaft,
bei denen meist eine mittlere Anzahl Patienten auf nur einige wenige SNPs
zu untersuchen ist. Wenn es gelingt, durch die Weiterentwicklung der Hardware
bzw. weiterer Optimierung, eine Verbesserung des Signal/Rausch-Verhältnisses
und damit die Diskriminierung von heterocygoter DNA zu erreichen, kann
diese Methode zukünftig bei der Analyse von mittelgroßen Patientengruppen
alternativ zu anderen Genotypisierungsmethoden verwendet werden.
The aim of this thesis was the development of a SNP genotyping method
involving PCR products immobilised on microarrays. For the analysis a fibre
optic affinity biosensor and a flow-through biochip scanner were used.
Fluorescent probes were hybridized with the immobilised PCR products. In
order to start the dissociation process the surface was rinsed with buffer
and the fluorescence intensity was measured.
Two different cases were studied: First, the full-matched DNA hybrid
(wildtyp single strand with complementary wildtype single strand), second
the mis-matched hybrid (wildtype single strand and mutant single strand).
After determinating the reaction rates (kD) as kinetic parameter the kD
values of both cases were compared. The experiments showed a significant
difference in the kD value of the full- and the mis-match hybrids.
Therefore, mutant and wildtype DNA were discriminated by kinetic analysis
of the dissociation process and analysis of the fluorescence intensity.
To set up the complete analysis process the reaction parameters like
coupling of the PCR products had to be optimised. Both affininty coupled
(streptavidin, neutravidin, avidin - biotin) and covalent methods
(EDC/methylimidazol) were carried out. Best results in spot homogeinity and
spot appearance were obtained with coupling of biotinylated PCR products on
neutravidin coated chip surfaces. Additionally, the length of the probe,
the spotting concentration, the spotting buffer and the reaction
temperature were optimised. In the optimised analysis PCR products (250
µg/µl) were spotted onto neutravidin coated surfaces. The hybridisation
and dissociation processes were carried out at 30°C. A HEPES-EDTA-NaCl
buffer was used for spotting, diluting of the fluorescent probe and rinsing
the microarray surface. A fluorescent probe was used with 13 nucleotides in
length. The mis- or full-matching base indicating the polymorphism was
located in the center position of the probe.
The analysis system was tested with the genomic DNA of a group of 24
homocygote individuals with a SNP in the SULT1A1 gene region. The
hybridisation and dissociation processes were carried out and the reaction
rates were determinated. Subsequently after the analysis in the
flow-through biochip scanner the fluorescence intensity of the
spots were measured. The results showed very good comparability with
results of a PCR-RFLP analysis (one false genotype). Additionally, a group
of 44 heterocygote DNA samples with one SNP in the adiponectin promotor
region were also genotyped. Compared to a reference method only 14
genotypes were correctly determined. This was mostly due to a low
signal-noise-ratio and needs to be further investigated.
Besides the problem in analysing heterocygote DNA samples the developed
analysis system is very useful for genotyping SNP in homocygote DNA
samples. The successful analysis of heterocygote sample is principally
possible and with further investigations/optimisation, a better analysis
should be possible.
The most important advantage of the developed method is the reverse
approach of binding PCR products at the surface instead of
oligonucleotides. This allows the parallel genotyping of several
individuals. Other advantages include low costs and medium sized dimensions
in terms of throughput.
Reeves, Emma. "Functional consequences of single nucleotide polymorphisms in ERAAP". Thesis, University of Southampton, 2011. https://eprints.soton.ac.uk/375582/.
Texto completoDallin, Joshua Jeffrey. "Analytical Comparison of Bovine Parentage Single Nucleotide Polymorphisms". DigitalCommons@USU, 2015. https://digitalcommons.usu.edu/etd/4450.
Texto completoBarbati, E. "SINGLE NUCLEOTIDE POLYMORPHISMS AND MICRORNAS AFFECTING PTX3 PRODUCTION". Doctoral thesis, Università degli Studi di Milano, 2012. http://hdl.handle.net/2434/168370.
Texto completoFreeman, Julia Carol. "Single Nucleotide Polymorphisms Linked to Essential Hypertension in Kasigau, Kenya". TopSCHOLAR®, 2013. http://digitalcommons.wku.edu/theses/1316.
Texto completoChen-Cheng, Charles. "JAMALAH--a system for the detection of single nucleotide polymorphisms". Thesis, Massachusetts Institute of Technology, 1996. http://hdl.handle.net/1721.1/40606.
Texto completoIncludes bibliographical references (leaves 70-75).
by Charles Chen-Cheng.
M.Eng.
Perla, Sravan K. "Epigenetic Regulation of the Human Angiotensinogen by Single Nucleotide Polymorphisms". University of Toledo Health Science Campus / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=mco1544800350207546.
Texto completoThompson, Nadine. "Single Nucleotide Polymorphisms in the Folypoly-gamma-glutamate synthetase Gene". VCU Scholars Compass, 2006. http://scholarscompass.vcu.edu/etd/672.
Texto completoConsolandi, C. "Development of DNA microarrays for human single nucleotide polymorphisms detection". Doctoral thesis, Università degli Studi di Milano, 2004. http://hdl.handle.net/2434/62035.
Texto completoKhalil, Mahmoud Salah. "Transforming growth factor beta 1 : role in the progression of chronic renal failure". Thesis, Sheffield Hallam University, 2002. http://shura.shu.ac.uk/19437/.
Texto completoLeung, Wing C. "Effects of single nucleotide polymorphisms in BCMO1 on β-carotene conversion". Thesis, University of Newcastle Upon Tyne, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.443996.
Texto completoSanqoor, Shaikha Hassan. "Single nucleotide polymorphisms : characterisation and application to profiling of degraded DNA". Thesis, University of Central Lancashire, 2009. http://clok.uclan.ac.uk/5700/.
Texto completoAlimat, Sharizah Binti. "Application of single nucleotide polymorphisms (SNPs) to forensic casework in Malaysia". Thesis, University of Central Lancashire, 2014. http://clok.uclan.ac.uk/10981/.
Texto completoMohamad, Razali Rozaimi Bin. "Studies on the relationship between single nucleotide polymorphisms and protein interactions". Thesis, Imperial College London, 2014. http://hdl.handle.net/10044/1/25959.
Texto completoGowrisankar, Sivakumar. "Predicting Functional Impact of Coding and Non-Coding Single Nucleotide Polymorphisms". University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1225422057.
Texto completoMercer, Heather Milliken. "The Distribution of Single Nucleotide Polymorphisms in Pyoderma Gangrenosum: Biomarker Discovery". Kent State University / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=kent1383769612.
Texto completoLiu, Yang. "Data mining methods for single nucleotide polymorphisms analysis in computational biology". HKBU Institutional Repository, 2011. http://repository.hkbu.edu.hk/etd_ra/1287.
Texto completoNasr, Amre Osman. "Single nucleotide polymorphisms related to immune responses in Plasmodium falciparum malaria /". Stockholm : Wenner-Gren Institute for Experimental Biology, Stockholm university, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-8168.
Texto completoWang, Tai-Chun. "Computational experiment for the solution of single nucleotide polymorphisms (SNPS) problems". Thesis, The University of Sydney, 2011. https://hdl.handle.net/2123/29228.
Texto completoLiu, Shuk Ming. "Single nucleotide polymorphism in human microsomal glutathione s-transferase gene and colorectal cancer /". View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202003%20LIU.
Texto completoIncludes bibliographical references (leaves 95-105). Also available in electronic version. Access restricted to campus users.
Svensson, Emma M. "Detecting Sex and Selection in Ancient Cattle Remains Using Single Nucleotide Polymorphisms". Doctoral thesis, Uppsala universitet, Evolutionsbiologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-123261.
Texto completoLu, Yang 1972. "High throughput study of the translational effect of human single nucleotide polymorphisms". Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=116089.
Texto completoMethods: Lymphoblastoid cell lines (LCLs) from 44 HapMap European individuals were used for polyribosomal fractionation and establishing the sample bank for the future study. The fractionated mRNA samples of 10 out of the 44 individuals were run on an Illumina GoldenGate Beadarray to detect allelic imbalance (developed by the group of T.J. Hudson and T.M. Pastinen).
Results: This study established a high-quality RNA bank, including 1,100 RNA fraction samples. By the Illumina chip, translational imbalance was detected in 75 out of 1483 (5.06%) assays, and 63 out of269 (23.4%) genes. The translational effect was well replicable by the resequencing method.
Conclusion: This study found that genetic effect on gene translation is a common mechanism of expression regulation. Our best hit found in the integrin beta 1 binding protein 1 gene (ITGB1BP1 ) highlights the role of mRNA 3'UTR secondary structure in gene translation.
Keywords: Gene translation, High throughput genotyping, Human genetics, Polyribosome, RNA, Single nucleotide polymorphism
Dixon, Lindsey Ann. "Investigation into the use of Single Nucleotide Polymorphisms for forensic identification purposes". Thesis, Cardiff University, 2006. http://orca.cf.ac.uk/56095/.
Texto completoSpaniolas, Stelios. "Food forensics : the application of single nucleotide polymorphisms technology for food authentication". Thesis, University of Nottingham, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.446391.
Texto completoSerao, Nick, Dianelys Gonzalez-Pena, Jonathan Beever, Dan Faulkner, Bruce Southey y Sandra Rodriguez-Zas. "Single nucleotide polymorphisms and haplotypes associated with feed efficiency in beef cattle". BioMed Central, 2013. http://hdl.handle.net/10150/610391.
Texto completoion transport, phosphorous metabolic process, and the MAPK signaling pathway were overrepresented among the genes harboring the SNPs associated with feed efficiency.CONCLUSIONS:The general SNP associations suggest that a single panel of genomic variants can be used regardless of breed and diet. The breed- and diet-dependent associations between SNPs and feed efficiency suggest that further refinement of variant panels require the consideration of the breed and management practices. The unique genomic variants associated with the one- and two-step indicators suggest that both types of indicators offer complementary description of feed efficiency that can be exploited for genome-enabled selection purposes.
Grochola, Lukasz Filip. "Identification and functional analysis of single nucleotide polymorphisms that affect human cancer". Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:aacc7084-81a8-4e97-b1ac-024d9bed106e.
Texto completoO’Mara, Tracy Ann-Maria. "The association of single nucleotide polymorphisms with endometrial cancer risk and prognosis". Thesis, Queensland University of Technology, 2013. https://eprints.qut.edu.au/63648/1/Tracy_O%E2%80%99Mara_Thesis.pdf.
Texto completoRamdayal, Kavisha. "Incidence and Regulatory Implications of Single Nucleotide Polymorphisms among Established Ovarian Cancer Genes". Thesis, Online access, 2009. http://etd.uwc.ac.za/usrfiles/modules/etd/docs/etd_gen8Srv25Nme4_5111_1277754725.pdf.
Texto completoNasr, Amre. "Single nucleotide polymorphisms related to immune responses in Plasmodium falciparum malaria". Doctoral thesis, Stockholms universitet, Wenner-Grens institut för experimentell biologi, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-8168.
Texto completoLo, Robert Su Chun. "Single nucleotide polymorphisms of mannan binding lectin and complications of chronic liver disease". Thesis, University of Leicester, 2016. http://hdl.handle.net/2381/37781.
Texto completoFiaschi, Linda. "Novel guidelines for the analysis of single nucleotide polymorphisms in disease association studies". Thesis, University of Nottingham, 2011. http://eprints.nottingham.ac.uk/11808/.
Texto completoFletcher, Jeremy Charles. "THE USE OF PYROSEQUENCING FOR THE ANALYSIS OF Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS". Master's thesis, University of Central Florida, 2004. http://digital.library.ucf.edu/cdm/ref/collection/ETD/id/4487.
Texto completoM.S.
Department of Chemistry
Arts and Sciences
Chemistry
Pego, Ana Miguel Fonseca. "Investigation on the relationship between violent death, cocaine abuse and single nucleotide polymorphisms". Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/9/9143/tde-10092018-171545/.
Texto completoA violência é um fenômeno aterrador espalhado por todo o mundo, resultando em eventos que podem, em última instância, causar a morte. Sabe-se que, em alguns países esse cenário é mais preocupante que em outros. O Brasil é um deles. O presente estudo teve como objetivo identificar o uso de cocaína em 105 casos postmortem provenientes do Instituto de Medicina Legal de São Paulo (IML-SP) por meio de métodos toxicológicos analíticos e posterior aplicação de testes genéticos para verificar se a presença de determinados polimorfismos de nucleotídeo único (SNPs) é mais predominante dentro dos usuários do que dos não usuários, o que explicaria uma possível suscetibilidade de um indivíduo ao abuso da droga. Amostras de sangue e cabelo foram analisadas através de cromatografia líquida de ultra-eficiência acoplada a espectrometria de massas e ionização por electrospray (UPLC-ESI-MS/MS) para distinguir entre uso recente ou crônico de cocaína entre indivíduos violentos cuja violência levou à sua morte. Para tal, dois métodos de extração baseados na técnica de \"dilute-and-shoot\" foram validados e utilizados para esse fim, e o resíduo final foi analisado através de um sistema UPLC-ESI-MS/MS. Dos 105 casos postmortem, foi encontrada uma proporção significativa de cocaína e seus produtos de biotransformação. O uso crônico da droga foi denotado em 53% dos casos, sendo estes positivos para cocaína e benzoilecgonina, seguidos de 43% para norcocaína, 40% para cocaetileno e 13% para anidroecgonina metil éster, no cabelo. Quanto ao sangue, refletindo o uso de cocaína antes da morte, 51% dos casos mostraram-se positivos para benzoilecgonina, seguido de 41% para cocaína, 23% para cocaetileno e 20% para norcocaína. Esses dados corroboram a hipótese provável da relação entre o uso da droga e comportamentos de risco/violentos. Quanto à genética, uma diferença significativa foi observada para o SNP rs4263329 do gene BCHE em seu modelo dominante, com maiores frequências dos genótipos A/G e G/G vistos em usuários de cocaína ao contrário de não usuários (OR=8,91; 95%IC=1,58-50,21; ρ=0,01). Da mesma forma, também o SNP rs6280 do gene DRD3 apresentou uma associação significativa tanto no seu modelo aditivo quanto dominante, sugerindo que o alelo C pode estar desempenhando um papel no uso de cocaína, pois ambos os genótipos T/C e C/C foram significativamente mais frequentes nos usuários do que não usuários. Essa associação não foi perdida quando ajustada para co-variáveis usando regressão logística (OR=4,96; 95%IC=1,07; ρ=0,04). Finalmente, uma associação estatisticamente significativa (ρ=0,003) também foi encontrada entre indivíduos com ambos os genótipos A/G e G/G dentro do SNP rs4263329 e o uso de cocaína HCl (f(A/G + G/G)=44,7%) versus crack (f(A/G + G/G)=7,7%) e não usuários (f(A/G + G/G)=16,2%). Em conclusão, este estudo encontrou associações significativas em dois SNPs relacionados ao uso de cocaína, no entanto, devido a várias limitações inerentes, estas devem ser confirmadas por mais estudos com um maior número de indivíduos e dentro de um cenário mais controlado. Hipóteses definitivas não poderão ser feitas neste momento e futuras pesquisas devem ser conduzidas.
Leach, Oliver. "Functional characterisation of multiple sclerosis-associated single nucleotide polymorphisms in the eomesodermin region". Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9b6bc711-181a-41ab-ae41-8dfb31878f77.
Texto completoWaterfall, Christy Marie. "Strategies for the detection of single nucleotide polymorphisms using the polymerase chain reaction". Thesis, University of Bath, 2002. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269677.
Texto completoMullersman, Jerald Eric. "Effect of Gender on the Association of Single-Nucleotide Polymorphisms with Bipolar Disorder". Digital Commons @ East Tennessee State University, 2011. https://dc.etsu.edu/etd/1230.
Texto completoLemos, Marcos Vinícius Antunes de. "Copy number variations and single-nucleotide polymorphisms associated with beef fatty acid profile in nellore cattle /". Jaboticabal, 2017. http://hdl.handle.net/11449/150817.
Texto completoCoorientador: Angélica Simone Cravo Pereira
Coorientador: Gregório Miguel Ferreira de Camargo
Banca: Ana Fabrícia Braga Magahães
Banca: Rodrigo Pelicioni Savegnago
Banca: Raysildo Barbosa Lobo
Banca: Aline Silva Mello Cesar
Resumo: Objetivou-se identificar regiões no genôma de bovinos da raça Nelore que apresentam variações no número de cópias (CNV) e, associar estes CNV com o perfil de ácidos graxos da carne. Além disso, objetivou-se realizar associação genica ampla utilizando os método de single step (GWASss) a fim de detectar regiões genômicas associadas aos ácidos graxos dos grupos saturados, mono e poliinsaturados, assim como os omegas 3, 6 e sua relação. O estudo de caracterização e distribuição dos CNVs ao longo do genoma de bovinos Nelore, foi realizado através do software PennCNV utizando dados genotípicos de 3.794 aniamais, resultando em 399.361 CNVs identificados. Após controle de qualidade, 2.902 foram mantidos nas analises, resultando em 195.873 CNVs, com tamanho medio de 54,744 pb, maximo de 8.7 Mb e minimo 3 kb. As regiões de CNV foram geradas pela sobreposição dos CNVs através do software CNVRuler. Os cromossomos que mostraram maior incidencia de CNVR foram BTA19 (24,26%), BTA23 (18,68%) e BTA25 (18,05%). Ja os que mostraram menor incidencia foram BTA29 (1,63%), BTA13 (9,72%) and BTA8 (9,72%). As 9.805 regiões da CNV estimadas no presente estudo cobrem aproximadamente 13.05% do genoma bovino e sobrepõem-se a 5.495 genes conhecidos que envolvem processos biológicos que poderiam estar envolvidos na adaptação ambiental da subespécie a áreas tropicais. O estudo de GWASss identificou 115 janelas que explicaram mais de 1% da variação genética aditiva para os 22 ácidos graxos estudados. A ident... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The objective of this study was to identify genomic regions of Nellore cattle that present variations in the number of copies (CNV) and to associate these CNV with the fatty acid profile of the meat. In addition, the objective of this study was to carry out a genome-wid association using the single step method (GWASss) to detect genomic regions associated with saturated, mono and polyunsaturated fatty acids, as well as omega 3, 6 and their relationship. The study of the characterization and distribution of CNVs along the Nellore genome was performed by PennCNV software using genotypic data of 3,794 animals, resulting in 399,361 CNVs identified. After quality control, 2,902 were maintained in the analyzes, resulting in 195,873 CNVs, with an average size of 54,744 pb, maximum of 8.7 Mb and minimum 3 kb. The CNV regions were generated by the overlap of the CNVs by CNVRuler software. The chromosomes that showed the highest incidence of CNVR were BTA19 (24.26%), BTA23 (18.68%) and BTA25 (18.05%). Those with the lowest incidence were BTA29 (1.63%), BTA13 (9.72%) and BTA8 (9.72%). The 9,805 CNV regions estimated in the present study covered approximately 13.05% of the bovine genome and overlaped 5,495 genes known to envolve in biological processes that could be involved in the environmental adaptation of the subspecies to tropical areas. The GWASss study showed 115 windows that explained more than 1% of the additive genetic variation for the 22 fatty acids studied. The identification of these regions and their genes, such as ELOVL5, ESRRG, PCYT1A and the ABC group genes (ABCA5, ABCA6 and ABCA10) are genes directly and indirectly related to lipid metabolism. The GWAS between AG phenotypes and CNVs resulted in a total of 186 CNVRs that were significant for the saturated (43), monosaturated (42), poly... (Complete abstract click electronic access below)
Doutor
Tate, Helena. "The effect of single nucleotide polymorphisms and mutations on congenital thrombotic thrombocytopenic purpura phenotype". Thesis, University of Westminster, 2017. https://westminsterresearch.westminster.ac.uk/item/q430y/the-effect-of-single-nucleotide-polymorphisms-and-mutations-on-congenital-thrombotic-thrombocytopenic-purpura-phenotype.
Texto completoHayward, Laura E. "Identification of Functional Single Nucleotide Polymorphisms Associated with Breast Cancer Based on Chromatin Modifications". Scholarship @ Claremont, 2016. http://scholarship.claremont.edu/cmc_theses/1312.
Texto completoBalasubramanian, Karthika. "Search for an association between single nucleotide polymorphisms of NPY2R and metabolic syndrome traits". Diss., [La Jolla] : University of California, San Diego, 2010. http://wwwlib.umi.com/cr/fullcit?p1477883.
Texto completoTitle from first page of PDF file (viewed July 13, 2010). Available via ProQuest Digital Dissertations. Includes bibliographical references (leaves 43-46).
Barnett, Catherine Margaret Eleanor. "Association of Single Nucleotide Polymorphisms in Surfactant Protein A and D with Otitis Media". The University of Waikato, 2007. http://hdl.handle.net/10289/2338.
Texto completoThain, Katherine Roberta. "Identifying functional single nucleotide polymorphisms in two candidate genes (PROC and PCSK9) in sepsis". Thesis, University of British Columbia, 2013. http://hdl.handle.net/2429/44755.
Texto completoMaugeri, Narelle. "Effects of single nucleotide polymorphisms on the expression of HSP70 genes, HSPA1A and HSPA1B". Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.531979.
Texto completoJardim, Priscila Magalhães da Veiga. "Mapeamento genético de marcadores SNPs (Single Nucleotide Polymorphisms) em cana-de-açúcar (Saccharum spp.)". Universidade Federal de Goiás, 2018. http://repositorio.bc.ufg.br/tede/handle/tede/9009.
Texto completoRejected by Luciana Ferreira (lucgeral@gmail.com), reason: Olhe as palavras-chaves, elas devem iniciar com letras maiúsculas. on 2018-10-30T11:15:40Z (GMT)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES
Sugarcane is an important culture quite relevant to the Brazilian economy. The production is growing as well as a cultivated area is increasing every year. The genome of this culture is still deficient due to complications such as high ploidy and the big genome that presents. Among the different genetic characterization studies, the development of genetic maps is important for providing information about the genome structure of a species. In addition, it can help develop the techniques of interpretation and use of genetic information. They provide more understanding of how genetic information is organized in the genome of sugarcane supplying a lack in the basic element in this culture. The maps constructed for sugarcane, so far, not shown saturated. This work was obtained a map for sugarcane using SNP markers based on genotyping-by-sequencing technology in next-generation sequencing using the target sequencing strategy (RAPiD-Seq). For obtaining the map, 103 clones RB97327 and RB72454 were used. Probes were designed based on sequence similarity using the sorghum genome as a reference. The construction of the binding groups, considering as a binding criterion of a recombination fraction equal 0.20; allowed the identification of 249 binding groups for the biparental population with 1: 1 segregation. A total of 20555 polymorphic were scored in the analysis. The sum of the average sizes of homeologia groups identified, using the sorghum genome as a reference, was 3964.68 cM for the female parent and 3797.05 cM for the male parent.
A cana-de-açúcar é uma cultura de importância bastante relevante para a economia brasileira. A produção de cana-de-açúcar no Brasil é crescente assim como a área cultivada vem aumentando a cada ano. A compreensão do genoma da cana-de-açúcar ainda é deficiente devido a complicações como alta ploidia e o grande genoma que a cultura apresenta. Dentre os diferentes estudos de caracterização genética, o desenvolvimento de mapas genéticos é importante por fornecer informações acerca da estrutura do genoma de uma espécie. Além disso, pode auxiliar no desenvolvimento das técnicas de interpretação e uso da informação genética. Eles possibilitam a compreensão mais abrangente da organização da informação genética no genoma da cana-de-açúcar suprindo uma carência do estudo básico sobre essa cultura. Os mapas construídos para cana-de-açúcar, até agora, não se mostraram completos. Neste trabalho foi obtido um mapa de ligação para cana-de-açúcar utilizando marcadores SNPs baseados na tecnologia de genotipagem por sequenciamento de nova geração utilizando a estratégia de target sequencing (RAPiD-Seq). Para a obtenção do mapa foram utilizados 103 genótipos obtidos do cruzamento entre os clones RB97327 e RB72454. Foram desenhadas sondas baseadas em sequenciamento de semelhança utilizando o genoma de sorgo como referência. A construção dos grupos de ligação, considerando-se como critério de ligação uma fração de recombinação de 0,20; permitiu a identificação de 249 grupos de ligação para a população biparental com segregação 1:1. Foram consideradas 20555 marcas polimórficas nas análises de construção do mapa de ligação. A soma dos tamanhos médios dos grupos de homeologia identificados, utilizando-se o genoma de sorgo como referência, foi de 3964,68 cM para o genitor feminino e de 3797,05 cM para o genitor masculino.
Trevisoli, Priscila Anchieta. "Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens". Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/11/11139/tde-21082018-152925/.
Texto completoO melhoramento genético é o principal responsável pelo aumento da eficiência da produção avícola nas últimas décadas e os programas de melhoramento de aves estão direcionados para um maior rendimento de carne e eficiência alimentar. Dentre as abordagens genômicas, estudos de associação genômica ampla (GWAS) identificaram loci associados com características quantitativas (QTLs) de carcaça em uma população de frangos de corte. Análise de GWAS identifica regiões em desequilíbrio de ligação com possíveis mutações causais e com o objetivo de refinar esses resultados, estudos de associações usando polimorfismos de base única (SNPs) não sinônimos podem ser úteis. O SNP não sinônimo pode ser predito como deletério por meio do Sorting Intolerant From Tolerant (SIFT) score quando a alteração de aminoácidos tem o potencial de impactar a função da proteína e consequentemente pode afetar o fenótipo. Portanto, neste estudo, SNPs preditos como deletérios localizados em regiões de QTLs foram identificados e associados com peso e rendimento de coxa, sobrecoxa, gordura abdominal e peito de frangos de corte. Modelo misto foi utilizado, com sexo, incubação e genótipos dos SNPs como efeitos fixos e família como efeito aleatório. De 20 SNPs analisados, seis foram associados significativamente (p<0,05) com peso e rendimento de coxa, sobrecoxa e peito, e três deles rs736010549, rs739508259 e rs313532967 estão presentes nos genes WDR77, VWA8 e BARL, respectivamente. Estes genes estão relacionados com processos biológicos como via de sinalização de esteroide, receptores de estrogênio e de ácidos biliares. Nossa estratégia permitiu a identificação de potenciais mutações causais associadas com crescimento e desenvolvimento muscular.
Carvalho, Thaysa Buss. "Avaliação de SNPs (Single Nucleotide Polymorphisms) nas diferentes formas clínicas da doença de Chagas". Universidade Estadual Paulista (UNESP), 2018. http://hdl.handle.net/11449/152931.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A doença de Chagas (DC), causada pelo protozoário Trypanosoma cruzi (T. cruzi), ainda é considerada como um problema de saúde pública em muitos países da América Latina. De acordo com a Organização Mundial da Saúde, estima-se que entre seis a sete milhões de pessoas no mundo estejam infectadas. Indivíduos na fase crônica da doença podem ser classificados como assintomáticos ou sintomáticos (estes, desenvolvendo as formas clínicas cardíaca, digestiva ou mista). Os assintomáticos correspondem a 70% dos indivíduos nessa fase e, embora apresentem sorologia positiva para anticorpos anti T-cruzi, não desenvolvem manifestações clínicas da doença. O motivo pelo qual alguns pacientes permanecem assintomáticos, e outros desenvolvem sintomas severos, ainda é desconhecido. Fatores genéticos do hospedeiro são bastante relevantes e podem explicar a heterogeneidade encontrada em pacientes que vivem com a doença em áreas endêmicas. Diante disso, o presente trabalho teve como objetivo avaliar SNPs (Single Nucleotide Polymorphisms) no gene TNF-α (rs1800629) e ACAT-1 (rs1044925) em indivíduos com DC crônica e verificar se os mesmos estão relacionados com a susceptibilidade para manifestação de formas clínicas sintomáticas com uso da técnica PCR-RFLP. Foram genotipadas 124 amostras para o gene TNF-α e 135 para o gene ACAT-1. Foi observada associação significativa da presença do alelo A do gene TNF- α em indivíduos sintomáticos em relação aos assintomáticos (p = 0,045). Também houve associação significativa entre o alelo G (p = 0,008) e o genótipo GG (p = 0,001) do gene TNF-α e os genótipos AA (p = 0,047) e AC (p = 0,016) do gene ACAT-1 nos indivíduos assintomáticos em relação aos sintomáticos. Nossos resultados sugerem que a presença do alelo A do gene TNF-α possa estar relacionada com a presença de manifestações clínicas sintomáticas na fase crônica da doença e o alelo G, bem como, genótipo GG possam estar associados com ausência de sintomas clínicos em indivíduos nessa fase. A respeito do SNP do gene ACAT-1, nossos dados sugerem efeito protetor dos genótipos AA e AC segundo apresentação de sintomas da doença na fase crônica, o que representa dado inédito em chagásicos.
Chagas disease (CD), caused by the protozoan Trypanosoma cruzi (T. cruzi), is still considered a public health problem in many Latin America countries. According to the World Health Organization, it is estimated that between six and seven million people worldwide are infected. Disease’s chronic phase individuals may be classified as asymptomatic or symptomatic (these, developing as clinical cardiac, digestive or mixed forms). Asymptomatic individuals account for 70% of the patients at this stage and, although they have positive serology for anti-T-cruzi antibodies, they do not develop it’s clinical manifestations. The reason why some patients remain asymptomatic, and others develop severe symptoms, is still unknown. Host’s genetic factors are quite relevant and may explain the heterogeneity found in patients living with the disease in endemic areas. The objective of this study was to evaluate SNPs in the TNF-α (rs1800629) and ACAT-1 (rs1044925) genes in individuals with chronic CD and to verify if the polymorphisms are related to the susceptibility to manifestation of symptomatic clinical forms using the PCR-RFLP technique. Were genotyped 124 samples for the TNF-α gene and 135 for the ACAT-1 gene. Significant association for the presence of the A allele of the TNF-α gene was observed for symptomatic individuals in relation to the asymptomatic ones (p = 0.045). There was also a significant association between the G allele (p = 0.008) and the GG genotype (p = 0.001) of the TNF-α gene and the AA (p = 0.047) and AC (p = 0.016) genotypes of the ACAT-1 gene for asymptomatic patients. Our results suggests that the presence of the TNF-α gene A allele may be related to the presence of symptomatic clinical manifestations in the chronic phase of the disease and the G allele as well as the GG genotype may be associated with absence of clinical symptoms in individuals at this stage. Regarding the ACAT-1 gene SNP, our data suggests a protective effect of AA and AC genotypes according to the to the presentation of chronic disease symptoms, which is an unprecedented finding in chagasic patients.
CAPES: 1578310
Pfister, Edith L. "Therapeutic Silencing of Mutant Huntingtin by Targeting Single Nucleotide Polymorphisms: A Dissertation". eScholarship@UMMS, 2012. https://escholarship.umassmed.edu/gsbs_diss/618.
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