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Dissertations / Theses on the topic 'Polymorphisms'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Karlsson, Sten. "Dynamics of genetic polymorphisms." Doctoral thesis, Norwegian University of Science and Technology, Department of Biology, 2005. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-1992.

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2

Guerra, Sandra. "Gene polymorphisms in SLE." Thesis, King's College London (University of London), 2013. https://kclpure.kcl.ac.uk/portal/en/theses/gene-polymorphisms-in-sle(96ff1bac-bcca-40f1-bfd7-24bc87dc7a25).html.

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Systemic lupus erythematosus (SLE) is an autoimmune disease, with a strong genetic component. It is characterised by hyperactive T and B cells, chronic inflammation and the production of antinuclear autoantibodies. SLE affects mostly women of child baring age, with a 9:1 ratio, women to men and has been reported to be more prevalent in people of non-European ancestry. In the era of genome-wide association studies (GWAS), elucidating the genetic factors present in SLE has been very successful, with over 28 confirmed disease susceptibility loci mapped and a number of candidate genes identified.

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3

Ho, Timothy Boon Leong. "Pathogen polymorphisms of mycobacterium tuberculosis." Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399538.

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4

Zghebeh, Helena. "Cytokine polymorphisms in pre-eclampsia." Thesis, University of Leeds, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511158.

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5

黎子韻 and Tsz-wan Kristi Lai. "Genetic polymorphisms in ovarian cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31970618.

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6

Tyrer, Jonathan Patrick. "Patterns and networks of polymorphisms." Thesis, University of Sheffield, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.307109.

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7

Barroso, Joana Barbara de Bessa. ""Obesity and inflammation: associated polymorphisms"." Master's thesis, Faculdade de Medicina da Universidade do Porto, 2008. http://hdl.handle.net/10216/23729.

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8

Bondarkova, A. M. "ADRB2 polymorphisms and asthma susceptibility." Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/33568.

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Beta-2-Adrenergic receptors (ADRB2) participate in the physiologic responses of the lung, including bronchodilation and bronchoprotection, through mechanisms such as mucociliary clearance, fluid accumulation and mediator release from mast cells and basophils. Thus, these receptors may also play an important role in the pathophysiology of asthma. The gene encoding ADRB2 is extremely polymorphic, and studies of this gene improves our understanding of asthma and possibly lead to new methods to prevent, diagnose and treat it. When you are citing the document, use the following link http://essuir.s

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9

Lai, Tsz-wan Kristi. "Genetic polymorphisms in ovarian cancer." Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25176493.

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10

Barroso, Joana Barbara de Bessa. ""Obesity and inflammation: associated polymorphisms"." Dissertação, Faculdade de Medicina da Universidade do Porto, 2008. http://hdl.handle.net/10216/23729.

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11

Genini, Sem. "Establishment of quick-methods to reveal DNA-polymorphisms single strand conformational polymorphism (SSCP) and heteroduplex analysis (HA) /." Zurich : Swiss Federal Institute of Technology, Department of Animal Sciences, Breeding Biology, 2002. http://e-collection.ethbib.ethz.ch/show?type=dipl&nr=50.

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12

Wasfi, Yasmine S. "Apoptosis-related genetic polymorphisms in sarcoidosis /." Connect to full text via ProQuest. IP filtered, 2005.

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13

Roecklein, Kathryn Ariel. "Melanopsin polymorphisms in seasonal affective disorder /." Download the thesis in PDF, 2005. http://www.lrc.usuhs.mil/dissertations/pdf/Roecklein2005.pdf.

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14

Dinc, Havva. "Alu Insertion Polymorphisms In Anatolian Turks." Master's thesis, METU, 2003. http://etd.lib.metu.edu.tr/upload/1169929/index.pdf.

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In the present study<br>ten autosomal human-specific Alu insertion polymorphisms<br>ACE, APO, A25, B65, D1, FXIIIB, HS4.32, HS4.69, PV92 and TPA25 were analyzed in approximately 100 unrelated individuals from Anatolia. Alu insertion polymorphisms offer several advantages over other nuclear DNA polymorphisms for human evolution studies. The frequencies of the ten biallelic Alu insertions in Anatolians were calculated and all systems were found to be in Hardy-Weinberg equilibrium (p&gt<br>0.05). By combining the results of this study with results of previous studies done on worldwide populat

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15

Marsh, Howard Piers. "Genetic polymorphisms in bladder cancer angiogenesis." Thesis, University of Bristol, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428513.

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16

Cadenas, Alicia M. "Y-chromosome polymorphisms in southern Arabia." FIU Digital Commons, 2006. http://digitalcommons.fiu.edu/etd/1962.

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In order to explore south Arabia's role in the migratory episodes leaving Africa to Eurasia and back, high-resolution Y-chromosome analyses of males from the United Arab Emirates (164), Qatar (72) and Yemen (62) were performed. The distribution of specific haplogroups (E3bl-M35 and J1-M267) and their microsatellite-based age estimates in southern Arabia offer additional insight on their dissemination. With the exception of Yemen, southern Arabia displays high diversity in its Y-haplogroup substructure and share similarities with populations along the eastern coast of the Gulf of Oman, possibly

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17

Harcourt, Rebecca Louise. "DNA sequence polymorphisms in Triticeae species." Thesis, University of Cambridge, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239617.

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18

Carpen, Jayshan D. "Polymorphisms in the human Period genes." Thesis, University of Surrey, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.441716.

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19

Pong-Wong, Ricardo. "Milk protein polymorphisms in dairy cattle." Thesis, University of Edinburgh, 1996. http://hdl.handle.net/1842/11270.

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This study covered two main areas of major genes affecting quantitative traits: (i) the estimation of their effects with emphasis on the milk protein loci and (ii) the use of genotype information on major genes as part of the selection criteria. In a situation in which only a subset of the population has known genotypes for a major gene, the estimated effects of this gene obtained with a method using performance information on all the individuals (with and without known genotype) were compared with those estimates obtained with a method using information on only individuals with known genotype

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20

Gayden, Tenzin. "Y-chromosome polymorphisms in the Himalayas." FIU Digital Commons, 2006. http://digitalcommons.fiu.edu/etd/3587.

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In the present study, high resolution Y-chromosome SNP analyses were employed to investigate the genetic origins of three distinct groups from Nepal namely, the general population of Kathmandu, Newar, and Tamang, as well as a collection from Tibet. The results suggest that the Tibetans and Nepalese are descendants of Tibeto-Burman speaking groups originating in Northeast Asia. With the exception of Tamang, both Newar and Kathmandu exhibit considerable similarities to Indian Y haplogroup substructure. These results suggest recent gene flow from the Indian subcontinent, a conclusion that is also

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21

Howell, Bruce F. "The Use of Genetic Polymorphisms and Discriminant Analysis in Evaluating Genetic Polymorphisms as a Predictor of Population." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3138/.

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Discriminant analysis is a procedure for identifying the relationships between qualitative criterion variables and quantitative predictor variables. Data bases of genetic polymorphisms are currently available that group such polymorphisms by ethnic origin or nationality. Such information could be useful to entities that base financial determinations upon predictions of disease or to medical researchers who wish to target prevention and treatment to population groups. While the use of genetic information to make such determinations is unlawful in states and confidentiality and privacy concerns

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22

Robitaille, Nicole. "Polymorphisme de l'apolipoprotéine E au sein de la population du Lac St-Jean Chibougamau /." Thèse, Chicoutimi : Université du Québec à Chicoutimi, 1994. http://theses.uqac.ca.

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Mémoire (M.Med.Exp.)-- Université du Québec à Chicoutimi, 1994.<br>Ce mémoire a été réalisé à l'Université du Québec à Chicoutimi dans le cadre du programme de maîtrise en médecine expérimentale de l'Université Laval extensionné à l'UQAC. CaQCU Document électronique également accessible en format PDF. CaQCU

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23

Sauer, Sascha. "Technology development for genotyping single nucleotide polymorphisms." [S.l.] : [s.n.], 2001. http://www.diss.fu-berlin.de/2002/102/index.html.

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24

Byström, Jonas. "Eosinophil Cationic Protein : Expression Levels and Polymorphisms." Doctoral thesis, Uppsala University, Department of Medical Sciences, 2002. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2059.

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<p>The eosinophil cationic protein (ECP) is usually associated with the eosinophil granulocyte. In this thesis the presence and production of this protein has been studied in two other cells. The circulating monocyte was found to contain ECP mRNA and small amounts of ECP, one thousand times less than that found in the eosinophil. The production decreased by differentiation of the myelomonoblastic cell line U937 into a macrophage phenotype. Submucosal lung macrophages did not stain for ECP and alveolar macrophages did not contain ECP mRNA. The circulating neutrophil contains ECP at a level hund

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25

Leviel, Keren Sullivan Patrick F. "Investigation of polymorphisms in schizophrenia relevant genes." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2006. http://dc.lib.unc.edu/u?/etd,305.

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Thesis (M.S.)--University of North Carolina at Chapel Hill, 2006.<br>Title from electronic title page (viewed Oct. 10, 2007). "... in partial fulfillment of the requirements for the degree of Master of Science in the Department of Genetics." Discipline: Genetics; Department/School: Medicine.

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26

Bashiardes, Evy. "Gene polymorphisms, gene expression and atherosclerotic plaques." Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.420882.

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27

Mathias, Neal. "Y chromosome DNA polymorphisms and human evolution." Thesis, University of Oxford, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.333355.

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28

Hubner, Richard Anthony. "Low penetrance polymorphisms and colorectal neoplasia susceptibility." Thesis, Institute of Cancer Research (University Of London), 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.499095.

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29

Hogben, Alexandra Leigh. "Diurnal preference, clock gene polymorphisms and personality." Thesis, University of Surrey, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.527006.

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30

Heathcote, Kirsten. "Polymorphisms of the human TGF-β1 gene". Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.603934.

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Experimental evidence has implicated a function for TGF-β1 in many pathological processes, including atherosclerosis, cancer, fibrotic diseases and osteoporosis. In this study 1115 bp of the TGF-β1 promoter, the 5' untranslated region and exons 1, 2 and 3 were screened by single stranded conformational polymorphism analysis. Four polymorphisms were identified in the TGF-β1 gene at -800 and -509 of the promoter and at +869 (codon 10) and +914 (codon 25) of exon 1. A simple non-radioactive assay was developed for each of these polymorphisms and also for a polymorphism located at +1628 (exon 5, c

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31

阮陳健貞 and Kian-cheng Tan-Un. "Chinese B thalassaemia: DNA polymorphisms andspecific mutations." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1986. http://hub.hku.hk/bib/B31230970.

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32

Wheatley, Amanda Patricia. "#beta#â†2-adrenoceptor polymorphisms and asthma." Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.326540.

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33

Lanchbury, J. S. S. "Studies of genetic polymorphisms in human populations." Thesis, University of Newcastle Upon Tyne, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.371918.

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34

Hennig, Branwen Johanna Wanda. "Genetic polymorphisms and early-onset periodontal diseases." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311107.

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35

Payne, Katie Emma. "β₃ integrin gene polymorphisms and gene regulation". Thesis, University of Leeds, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.413197.

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36

Reynard, Mark. "Cytokine gene polymorphisms and their clinical relevance." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.404568.

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37

Brown, Jason John. "Polymorphisms of the equine Major Histocompatibility Complex." Thesis, University of Liverpool, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.406666.

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38

Baresic, A. "Structural analysis of single amino acid polymorphisms." Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1344177/.

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Understanding genetic variation is the basis for prevention and diagnosis of inherited disease. In the `next generation sequencing' era with rapidly accumulating variation data, the focus has shifted from population-level analyses to individuals. This thesis is centred on the problem of gathering, storing and analysing mutation data to understand and predict the effects single amino acid mutations will have on protein structure and function. I present analysis of a subset of mutations and a new predictive method implemented to expand the coverage of the structural effects by our pipeline. I ch

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39

Singh, Ravi Kumar. "Platelet reactivity, polymorphisms and premature myocardial infarction." Thesis, University of Leicester, 2005. http://hdl.handle.net/2381/29880.

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I have carried out a detailed assessment of platelet function and reactivity in 205 subjects that suffered a premature MI (at a mean age 42.3 +/- 5.7) and 200 age and sex matched controls, to two endogenous platelet agonists adenosine diphosphate (ADP) and thrombin receptor activating peptide (TRAP). I have further analysed the effect on platelet function of polymorphisms in two platelet receptors (GPIIbIIIa C196T and GPIaIIa G873A), which have been proposed as genetic risk factors for MI. Platelet reactivity to several concentrations of ADP and TRAP, measured as degree of fibrinogen binding b

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40

Greene, Jennifer A. "Toll-like Receptor Polymorphisms and Cerebral Malaria." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270153850.

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41

Yoshida, Kanako. "Analysis of DNA polymorphisms for human identification." Kyoto University, 2000. http://hdl.handle.net/2433/181418.

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42

Lau, Chi Chiu. "Hepatitis B virus and single nucleotide polymorphisms." HKBU Institutional Repository, 2007. http://repository.hkbu.edu.hk/etd_ra/810.

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43

Williams, Neil Ray. "PCR-based polymorphisms in bermudagrass (Cynodon spp.)." [Gainesville, Fla.] : University of Florida, 2003. http://purl.fcla.edu/fcla/etd/UFE0001484.

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44

Wong, Li-Chuen. "IL-10 promoter polymorphisms in atopic dermatitis." Thesis, The University of Sydney, 2002. https://hdl.handle.net/2123/27849.

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Atopic dermatitis (AD) is one of the many clinical manifestations of atopy. It is one of the most common chronic inflammatory skin diseases with increasing prevalence over the last century. The aetiology of this disease is multifactorial with a complex interaction of genetic, environmental and immunologic factors.

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45

Clark, Daniel N. "Promoter Polymorphisms in Interferon Regulatory Factor 5." BYU ScholarsArchive, 2013. https://scholarsarchive.byu.edu/etd/4058.

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The promoter region of interferon regulatory factor 5 (IRF5) contains the rs2004640 T or G single nucleotide polymorphism (SNP) and a CGGGG indel. Both of these polymorphisms have been implicated as genetic risk factors for several autoimmune diseases, including systemic lupus erythematosus, whose pathology involves altered apoptosis and cytokine signaling. The polymorphisms' overall effect is to increase IRF5 levels. IRF5 is a transcription factor of several cytokines, including interferon, and is pro-apoptotic. Thus an alteration of cytokine levels and apoptosis signaling due to high IRF5 le

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46

Gutierrez, Cortes Nicolas. "Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes." Thesis, Bordeaux 2, 2011. http://www.theses.fr/2011BOR21877/document.

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Les mitochondries, organelles intracellulaires des eucaryotes, fournissent par les oxydations phosphorylantes l'essentiel de l'énergie nécessaire aux différents travaux cellulaires sous la forme d'ATP grâce à un couplage entre la chaîne respiratoire et l’ATPsynthase. Ces réactions du métabolisme énergétique sont assurées par des complexes enzymatiques constitués de sous-unités codées à la fois par l'ADN nucléaire et par l'ADN mitochondrial. Il a été montré que des défauts dans l'activité de ces complexes pouvaient être responsables de l’apparition de pathologies regroupées sous le nom de cytop

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47

Torkko, Kathleen Carroll. "Vitamin D receptor gene polymorphisms and prostate cancer /." Connect to full text via ProQuest. IP filtered, 2005.

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Thesis (Ph.D. in Epidemiology) -- University of Colorado at Denver and Health Sciences Center, 2005.<br>Typescript. Includes bibliographical references (leaves 95-118). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;

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48

Chu, Sok-fan. "Association between [beta]-Chemokine gene polymorphisms and tuberculosis." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B35736136.

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49

Schwonbeck, Susanne. "Analyse von Single-Nucleotide-Polymorphisms an Glas-Oberflächen." [S.l. : s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=974115568.

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50

Schwonbeck, Susanne. "Analyse von Single Nucleotide Polymorphisms an Glas-Oberflächen." Phd thesis, Universität Potsdam, 2004. http://opus.kobv.de/ubp/volltexte/2005/221/.

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Ziel der vorliegenden Arbeit war die Entwicklung einer SNP-Genotypisierungsmethode mit auf Mikroarrays immobilisierten PCR-Produkten. Für die Analyse wurde ein faseroptischer Affinitätssensor bzw. ein Durchfluss-Biochip-Scanner mit integrierter Fluoreszenzdetektion verwendet. An den immobilisierten Analyten (PCR-Produkten) wurde eine Fluoreszenzoligonukleotidsonde hybridisiert und anschließend die Dissoziation der Sonde im Fluss verfolgt. Die Diskriminierung von Wildtyp- und Mutanten-DNA erfolgte durch die kinetische Auswertung der

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