Rozprawy doktorskie na temat „Polymorphisms”
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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.
Pełny tekst źródłaGuerra, 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.
Pełny tekst źródłaHo, Timothy Boon Leong. "Pathogen polymorphisms of mycobacterium tuberculosis". Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399538.
Pełny tekst źródłaZghebeh, Helena. "Cytokine polymorphisms in pre-eclampsia". Thesis, University of Leeds, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511158.
Pełny tekst źródła黎子韻 i 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.
Pełny tekst źródłaTyrer, Jonathan Patrick. "Patterns and networks of polymorphisms". Thesis, University of Sheffield, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.307109.
Pełny tekst źródłaBarroso, 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.
Pełny tekst źródłaBondarkova, A. M. "ADRB2 polymorphisms and asthma susceptibility". Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/33568.
Pełny tekst źródłaLai, Tsz-wan Kristi. "Genetic polymorphisms in ovarian cancer". Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25176493.
Pełny tekst źródłaBarroso, Joana Barbara de Bessa. ""Obesity and inflammation: associated polymorphisms"". Dissertação, Faculdade de Medicina da Universidade do Porto, 2008. http://hdl.handle.net/10216/23729.
Pełny tekst źródłaGenini, 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.
Pełny tekst źródłaWasfi, Yasmine S. "Apoptosis-related genetic polymorphisms in sarcoidosis /". Connect to full text via ProQuest. IP filtered, 2005.
Znajdź pełny tekst źródłaRoecklein, Kathryn Ariel. "Melanopsin polymorphisms in seasonal affective disorder /". Download the thesis in PDF, 2005. http://www.lrc.usuhs.mil/dissertations/pdf/Roecklein2005.pdf.
Pełny tekst źródłaDinc, Havva. "Alu Insertion Polymorphisms In Anatolian Turks". Master's thesis, METU, 2003. http://etd.lib.metu.edu.tr/upload/1169929/index.pdf.
Pełny tekst źródłaten autosomal human-specific Alu insertion polymorphisms
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>
0.05). By combining the results of this study with results of previous studies done on worldwide populations, the genetic distance (Nei&rsquo
s DA) between each pair of populations was calculated and neighbor joining trees were constructed. In general, geographically closer populations were found to be also genetically similar. Principal component analysis (PCA) was performed and Anatolia was found to be in the European cluster. As a result of PCA
it was concluded that FXIIIB, PV92 and ACE were the variables contributing the most to the explanation of the variation between the populations. Additionally
canonical variates analysis (CVA) concluded that the most discriminative markers for the groups of populations were PV92, D1, ACE and HS4.32. Pair-wise Fst values were also calculated between Anatolians and some of the populations for which the data was available. It was concluded that, Anatolians have non-significant pair-wise Fst values with Swiss and French Acadian populations. Lastly, heterozygosity vs. distance from centroid graph was constructed and it was found that Anatolians and India-Hindu had exactly the expected heterozygosity value predicted by the model of Harpending and Ward (1982).
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.
Pełny tekst źródłaCadenas, Alicia M. "Y-chromosome polymorphisms in southern Arabia". FIU Digital Commons, 2006. http://digitalcommons.fiu.edu/etd/1962.
Pełny tekst źródłaHarcourt, Rebecca Louise. "DNA sequence polymorphisms in Triticeae species". Thesis, University of Cambridge, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239617.
Pełny tekst źródłaCarpen, Jayshan D. "Polymorphisms in the human Period genes". Thesis, University of Surrey, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.441716.
Pełny tekst źródłaPong-Wong, Ricardo. "Milk protein polymorphisms in dairy cattle". Thesis, University of Edinburgh, 1996. http://hdl.handle.net/1842/11270.
Pełny tekst źródłaGayden, Tenzin. "Y-chromosome polymorphisms in the Himalayas". FIU Digital Commons, 2006. http://digitalcommons.fiu.edu/etd/3587.
Pełny tekst źródłaHowell, 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/.
Pełny tekst źródłaRobitaille, 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.
Pełny tekst źródłaCe 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
Sauer, Sascha. "Technology development for genotyping single nucleotide polymorphisms". [S.l.] : [s.n.], 2001. http://www.diss.fu-berlin.de/2002/102/index.html.
Pełny tekst źródłaByström, 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.
Pełny tekst źródłaThe 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 hundred fold less than the eosinophil. We found that the protein is located to the primary granules of the neutrophil but could detect no ECP mRNA in the cell. It was shown in vitro that the protein was taken up by the cell and partly transported to the primary granules. The uptake did not seem to be receptor mediated. Upon stimulation of the neutrophils, ECP previously taken up, was re-secreted.
The ECP protein is heterogeneous both to molecular characteristics and to function. To evaluate if a genetic component is involved, the ECP gene was analysed in 70 individuals. Three single nucleotide polymorphisms (SNP´s) were found, denoted 277(C>T), 434(G>C) and 562(G>C). The two first were located to the mature peptide-coding region and would change the amino acids, arg45cys and arg97thr. The prevalence of the most common SNP, 434, was evaluated in two eosinophil-related diseases, allergy/asthma and Hodgkin Lymphoma (HL). Forty-three HL patients were evaluated and it was found that the 434GG was significantly more prevalent in patients having nodular sclerosis (NS) as compared to other histologies (p=0.03). Erythrocyte sedimentation rate was also related to the 434GG genotype (p=0.009). In 209 medical students 434GG was more common (p=0.002) in those who indicated allergy. The genotype was unrelated to the production of IgE antibodies to allergens. In analysis of 76 subjects with asthma it was found that the 434GG genotype was significantly more common among allergic asthmatics (p=0.04). Asthma and HL-NS are characterized by fibrosis and eosinophils and ECP has been suggested in fibrosis development.
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.
Pełny tekst źródłaTitle 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.
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.
Pełny tekst źródłaMathias, Neal. "Y chromosome DNA polymorphisms and human evolution". Thesis, University of Oxford, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.333355.
Pełny tekst źródłaHubner, 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.
Pełny tekst źródłaHogben, 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.
Pełny tekst źródłaHeathcote, Kirsten. "Polymorphisms of the human TGF-β1 gene". Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.603934.
Pełny tekst źródła阮陳健貞 i 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.
Pełny tekst źródłaWheatley, 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.
Pełny tekst źródłaLanchbury, 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.
Pełny tekst źródłaHennig, 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.
Pełny tekst źródłaPayne, 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.
Pełny tekst źródłaReynard, 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.
Pełny tekst źródłaBrown, 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.
Pełny tekst źródłaBaresic, A. "Structural analysis of single amino acid polymorphisms". Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1344177/.
Pełny tekst źródłaSingh, Ravi Kumar. "Platelet reactivity, polymorphisms and premature myocardial infarction". Thesis, University of Leicester, 2005. http://hdl.handle.net/2381/29880.
Pełny tekst źródłaGreene, 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.
Pełny tekst źródłaYoshida, Kanako. "Analysis of DNA polymorphisms for human identification". Kyoto University, 2000. http://hdl.handle.net/2433/181418.
Pełny tekst źródłaLau, Chi Chiu. "Hepatitis B virus and single nucleotide polymorphisms". HKBU Institutional Repository, 2007. http://repository.hkbu.edu.hk/etd_ra/810.
Pełny tekst źródłaWilliams, Neil Ray. "PCR-based polymorphisms in bermudagrass (Cynodon spp.)". [Gainesville, Fla.] : University of Florida, 2003. http://purl.fcla.edu/fcla/etd/UFE0001484.
Pełny tekst źródłaWong, Li-Chuen. "IL-10 promoter polymorphisms in atopic dermatitis". Thesis, The University of Sydney, 2002. https://hdl.handle.net/2123/27849.
Pełny tekst źródłaClark, Daniel N. "Promoter Polymorphisms in Interferon Regulatory Factor 5". BYU ScholarsArchive, 2013. https://scholarsarchive.byu.edu/etd/4058.
Pełny tekst źródłaGutierrez, Cortes Nicolas. "Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes". Thesis, Bordeaux 2, 2011. http://www.theses.fr/2011BOR21877/document.
Pełny tekst źródłaMitochondria, intracellular organelles of eukaryotic organisms, provide most of the necessary energy for cellular activity through oxidative phosphorylation, synthesizing ATP (energy source for the cell) by a coupling between the respiratory chain and the ATPsynthase. These energy metabolism reactions are carried out by enzymatic complexes constituted by sub-units coded by both nuclear and mitochondrial DNA. It has been shown that activity defects in these complexes could be responsible for a group of pathologies under the name of mitochondrial cytopathies.One of the fundamental issues of the study of the mechanisms that lead to mitochondrial cytopathies is the understanding of the influence that mitochondrial DNA has over mitochondrial metabolism. Indeed, mitochondria have their own DNA, and mutations in this DNA are classified according to their impact on mitochondrial metabolism: pathological mutations, which have negative consequences on mitochondrial metabolism, and polymorphisms, which are considered to be neutral.In order to study the influence of mtDNA on energy metabolism, I used two different models: cybrid cells carrying mtDNA mutations found in non-syndromic hearing loss patients, and cybrid cells carrying polymorphisms defining haplogroup J.The results gathered in these studies show that the difference between pathological mutations and polymorphisms is not as big as previously believed. Indeed, it depends on several factors, such as the nuclear and mitochondrial genetic backgrounds, as well as the environmental factors, because under the influence of these factors a mutation considered as pathological may become neutral, and a polymorphism considered neutral may become pathological
Torkko, Kathleen Carroll. "Vitamin D receptor gene polymorphisms and prostate cancer /". Connect to full text via ProQuest. IP filtered, 2005.
Znajdź pełny tekst źródłaTypescript. Includes bibliographical references (leaves 95-118). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;
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.
Pełny tekst źródłaSchwonbeck, Susanne. "Analyse von Single-Nucleotide-Polymorphisms an Glas-Oberflächen". [S.l. : s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=974115568.
Pełny tekst źródłaSchwonbeck, Susanne. "Analyse von Single Nucleotide Polymorphisms an Glas-Oberflächen". Phd thesis, Universität Potsdam, 2004. http://opus.kobv.de/ubp/volltexte/2005/221/.
Pełny tekst źródłaDie 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.