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Дисертації з теми "High resolution melting analysi"

Автор: Grafiati

Опубліковано: 10 березня 2023

Оновлено: 31 липня 2025

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1

Dempsey, Nunez Laura. "Spectrum of mutations in MMAA identified by high resolution melting analysis." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110535.

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The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria. We have been concerned that somatic cell methods of diagnosis may miss patients with mild cellular phenotypes. A high resolution melting (HRM) analysis assay was developed to rapidly scan the coding exons and flanking intronic regions of the MMAA genes for variants. DNA from 96 unaffected reference individuals, 72 patients with complementation confirmed cblA, and 181 patients with elevated isolate

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2

Illson, Margaret. "Spectrum of mutations in MMAB identified by high resolution melting analysis." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110564.

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Pathogenic variants in the MMAB gene (OMIM 607958) are responsible for the cblB class of cobalamin-responsive methylmalonic aciduria (MMA) (OMIM 251110). MMAB encodes cobalamin adenosyltransferase, a mitochondrial enzyme responsible for the formation of adenosylcobalamin (AdoCbl). AdoCbl subsequently functions as a cofactor for methylmalonyl-CoA mutase (MCM) during the isomerization of L-methylmalonyl-CoA to succinyl-CoA. Somatic cells studies have been used to evaluate patient samples for cobalamin related disorders. Due to high basal levels of propionate incorporation, some patients wi

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3

Souza, Roberto Antonio de. "Genotipagem de linhagens de Yersinia spp. por high-resolution melting analysis." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/60/60135/tde-27062013-151724/.

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O gênero Yersinia pertence à família Enterobacteriaceae e compreende 17 espécies. Y. pestis, Y. pseudotuberculosis e Y. enterocolitica são reconhecidamente patógenos de humanos e animais. Y. pestis cause a peste. Y. pseudotuberculosis e Y. enterocolitica são agentes causadores, sobretudo, de gastroenterites transmitidas por água e alimentos. As demais 14 espécies são, usualmente, consideradas não-patogênicas, com exceção de Y. ruckeri sorogrupo O:1 que causa infecções em peixes. Nas últimas décadas, a tipagem molecular tornou-se uma importante ferramenta nos estudos filogenéticos de numerosos

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4

Darbandy, Ashna. "Optimization of High Resolution Melting Analysis for Detection of KRAS Gene Mutations." Thesis, Uppsala University, Department of Medical Biochemistry and Microbiology, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-130751.

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<p><strong>Background: </strong>Mutations of the KRAS oncogene occur in a variety types of human tumors. By assessing the mutation status of KRAS, clinicians can predict patient response to anti-EGFR therapy such as cetuximab (Erbitux®) or panitumumab (Vectibix®) in patients with metastatic colorectal cancer. The aim of this study was to optimize a real-time PCR method followed by high resolution melting analysis (HRM) in a single step for detection of most common mutations within the KRAS gene. <strong>Methods:</strong> Seven DNA samples with predefined KRAS mutations and 19 tumor samples fro

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5

Burrows, Adria Michelle. "A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting." University of the Western Cape, 2018. http://hdl.handle.net/11394/6536.

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>Magister Scientiae - MSc<br>The objective of this study is to deduce paternal ancestry using ancestry informative single nucleotide polymorphisms (SNPs) by means of High Resolution Melting (HRM). This was completed by producing a multiplex system that was designed in a hierarchical manner according to the YSNP tree. This project mainly focused on African ancestry and was used to infer paternal ancestral lineages on the Johannesburg Coloured population. South Africa has a diverse population that has ancestral history from across the globe. The South African Coloured population is the mo

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6

Michelle, Burrows Adria. "A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting." University of the Western Cape, 2018. http://hdl.handle.net/11394/6489.

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Magister Scientiae - MSc (Biotechnology)<br>The objective of this study is to deduce paternal ancestry using ancestry informative single nucleotide polymorphisms (SNPs) by means of High Resolution Melting (HRM). This was completed by producing a multiplex system that was designed in a hierarchical manner according to the YSNP tree. This project mainly focused on African ancestry and was used to infer paternal ancestral lineages on the Johannesburg Coloured population. South Africa has a diverse population that has ancestral history from across the globe. The South African Coloured population i

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7

PIMENTEL, ROMERO CESAR HUGO. ""INNOVATIVE SIGNAL PROCESSING TECHNIQUES IN BIOENGINEERING: COMPRESSED SENSING AND HIGH RESOLUTION DNA MELTING ANALYSIS"." Doctoral thesis, Università degli studi di Ferrara, 2021. http://hdl.handle.net/11392/2487913.

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The first part starts with an introduction of the Compressed Sensing (CS) theory. After that, an overview of the state-of-the art of some CS adaptations by using additional priors in the different stages is presented in order to explain the new CS adaptation proposed in this work. Some of the CS adaptations reviewed are confronted using synthetic signals, synthetic electrocardiograph (ECG) signals and electroencephalographic (EEG) signals. The second part provides general concepts of biology and current developments in bioinformatics to read and and analyze the DNA. Questions like what a seque

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8

Tsang, Ho-yin, and 曾皓言. "Detection of clinically silent beta-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48334182.

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Mutations in the beta-globin (β-globin) gene cause beta-thalassaemia (β-thalassaemia).The screening strategy for β-thalassaemiais based on the value of mean corpuscular volume (MCV) from the complete blood count (CBC) data. Current laboratory practice considers blood samples with MCV higher than 80fL as normal. No further assessment will be done on these samples. However, there are clinically silent β-globin gene mutations with MCV higher than 80fL, for example, heterozygous haemoglobin E (HbE). The importance of finding out this kind of mutations is due to the serious outcome when they occur

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9

Ho, Sophia KW, and 何廣慧. "Detection of clinically silent alpha-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/206558.

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α-thalassemia is an inherited globin gene disorder commonly found among the Chinese population. It is composed of both non-deletional and deletional α-globin gene mutations. Classical α-thalassemia presents with red cell microcytosis but silent cases with a normal mean corpuscular volume (MCV) are also seen. Routine laboratory testing methods for large-scale detection of silent α-thalassemia mutations are onerous and time-consuming. Furthermore, methods such as denaturing high performance liquid chromatography (HPLC) or denaturing gradient gel electrophoresis (DGGE) for scanning of point muta

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10

Ozbak, Hani. "The application of High Resolution Melting Analysis (HRMA) for rapid detection of bacteria responsible for bloodstream infections." Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/the-application-of-high-resolution-melting-analysis-hrma-for-rapid-detection-of-bacteria-responsible-for-bloodstream-infections(b3d5c15b-9541-44c2-873c-f7a32fc60282).html.

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Background: The diagnosis of bloodstream infection is a significant challenge for healthcare providers and is often associated with severe illness (sepsis) and poor outcomes. Rapid detection and identification of pathogens followed by characterisation of antibiotic resistance could help direct early treatment and improve patient care. Standard blood culture methods, which usually take 2-5 days to complete, can confirm if there is a bacteraemia or not in suspected patients. However, molecular approaches have been developed and are being increasingly investigated to overcome disadvantages of cul

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11

Loiacono, M. "MOLECULAR CHARACTERIZATION BY RT-REAL TIME PCR AND HIGH RESOLUTION MELTING ANALYSIS FOR FOOD SAFETY AND VETERINARY DIAGNOSTICS." Doctoral thesis, Università degli Studi di Milano, 2015. http://hdl.handle.net/2434/338720.

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This PhD thesis is the outcome of a range of activities and experimental results aimed to a better characterization of the risk that Escherichia coli and other microrganisms and parasites may pone to the health of animals and finally humans. One of the main activity of the present project was based on the test hypothesis that the virulence profile of E. coli strains toward bovine mammary gland can be modulated by the interaction with the host cells. These hypothesis were tested through a gene expression study of some virulence factors of six E. coli strains when co-cultured with a bovine mamma

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12

Raphela, Mashikoane Pinky Jane. "Molecular characterization of Mycoplasma synoviae in chickens in South Africa using single-stranded conformation polymorphism and high-resolution melting curve analysis of the vlhA gene." Diss., University of Pretoria, 2012. http://hdl.handle.net/2263/26196.

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Mycoplasma synoviae (Ms) causes respiratory infection and synovitis in chickens and turkeys and is an economically important pathogen of poultry worldwide. It is critically important to characterize Ms strains, especially in countries in which poultry flocks are vaccinated with the live attenuated Ms strain MS-H. Vaccination with this vaccine may cause sero-conversion and persistence of the vaccine strain in the respiratory tract and will frequently result in positive Ms cultures and PCR results. Vaccination of flocks therefore complicates the diagnosis of Ms by the presence of detectable anti

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13

Brecht, Gadean. "Genetic analysis of mitochondrial DNA within Southern African populations." UWC, 2020. http://hdl.handle.net/11394/7365.

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>Magister Scientiae - MSc<br>As human beings we are curious about our origin and ancestry. A curiosity has led to an investigation of human evolution and expansion across the world by means of population genetics and phylo-genetics by evaluating a region in Southern Africa that is largely unknown. The objective of this study was to develop a quick, inexpensive and accurate hierarchical diagnostic screening system of the MtDNA phylogenetic tree, AI-SNPs in the mtDNA genome by using High Resolution Melting analysis to evaluate the population composition and ancestral haplogroups of Southern Af

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14

Al_griw, Huda Hm. "Molecular detection of bloodstream pathogens in critical illness." Thesis, University of Manchester, 2012. https://www.research.manchester.ac.uk/portal/en/theses/molecular-detection-of-bloodstream-pathogens-in-critical-illness(5f143a31-3694-454c-8940-5ae434f1eb31).html.

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Background: Critically ill patients are at particular risk of developing bloodstream infection. Such infections are associated with the development of sepsis, leading to a marked increase in mortality rate. Early detection of the causative organism and appropriate antibiotic treatment are therefore critical for optimum outcome of patients with nosocomial infection. Current infection diagnosis is based on standard blood culture techniques. However, microbiological culture has a number of limitations, not least that it takes several days to confirm infection and is therefore not useful in direct

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15

Sedláková, Lucie. "Analýza DNA izolované z různých typů probiotických výrobků s využitím PCR v reálném čase a HRM analýzy." Master's thesis, Vysoké učení technické v Brně. Fakulta chemická, 2016. http://www.nusl.cz/ntk/nusl-240562.

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The aim of this diploma thesis was to introduce real-time PCR with high-resolution melting analysis for Bifidobacterium species. Currently a small number of publication, dealing with identification of Bifidobacterium species using high-resolution melting analysis, is available. According to publications dealing with identification of lactic acid bacteria were selected primers P1V1 and P2V1, LAC1 and LAC2, LsppUPF and LsppUPR, V3F and V3R, V6F and V6R. Using this primers bacterial DNA was amplified by real-time PCR with high-resolution melting analysis. After evaluation of the measured results

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16

Pires, Elisabete Sofia Videira. "Real-Time PCR, High Resolution Melting - aplicações forenses." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10747.

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Mestrado em Biologia Molecular e Celular<br>Apontada como a maior revolução científica na área forense desde a descoberta das impressões digitais, a identificação humana por meio da análise do DNA tornou-se uma poderosa ferramenta de investigação, auxiliando na elucidação de casos forenses, baseando-se cientificamente na existência de polimorfismos genéticos ao longo do genoma em indivíduos diferentes, que faz com que cada pessoa possua um código genético único. Com a introdução da real-time PCR nas investigações forenses, tornou-se possível uma análise sensível e específica de regiões

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17

Konečná, Jana. "PROBIOTICKÉ GENY POTRAVINÁŘSKY VÝZNAMNÝCH BAKTERIÍ MLÉČNÉHO KVAŠENÍ." Doctoral thesis, Vysoké učení technické v Brně. Fakulta chemická, 2019. http://www.nusl.cz/ntk/nusl-402108.

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Isolation of deoxyribonucleic acid (DNA) is an important step in the molecular diagnostics of microorganisms. A high quality of isolated DNA is necessary for DNA amplification by the polymerase chain reaction (PCR). The conventional DNA isolation using phenol chloroform extraction and DNA precipitation in ethanol is time consuming and requires the use of toxic phenol. Magnetic separation techniques using magnetic solid particles are one of modern methods to speed up the nucleic acids isolation. The aim of this work was to use two different types of magnetic particles for solidphase DNA extra

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18

Konečná, Jana. "Využití molekulárně biologických technik pro identifikaci a analýzu probiotických bakterií." Doctoral thesis, Vysoké učení technické v Brně. Fakulta chemická, 2019. http://www.nusl.cz/ntk/nusl-402114.

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Isolation of deoxyribonucleic acid (DNA) is an important step in the molecular diagnostics of microorganisms. A high quality of isolated DNA is necessary for DNA amplification by the polymerase chain reaction (PCR). The conventional DNA isolation using phenol-chloroform extraction and DNA precipitation in ethanol is time-consuming and requires the use of toxic phenol. Alternative method of DNA isolation is use of commercially available kits which, however, are expensive and their efficiency is low. Magnetic separation techniques using magnetic solid particles are one of modern methods to speed

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19

Hamano, Yuya. "Forensic age prediction by use of methylation-sensitive high resolution melting." Kyoto University, 2018. http://hdl.handle.net/2433/232076.

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20

Salgado, Isa Sofia Ribeiro. "Deteção de mutações nos genes JAK2 e MPL por high resolution melting." Master's thesis, Universidade de Aveiro, 2013. http://hdl.handle.net/10773/12628.

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Mestrado em Biologia Aplicada<br>As NMPs representam um grupo heterogéneo de doenças clonais caracterizadas pela expansão e produção excessiva de eritrócitos, granulócitos e/ou plaquetas sanguíneas na medula óssea. Em 2005, foi identificada a mutação V617F no gene JAK2 numa elevada frequência de doentes com NMP, em especial nos doentes com PV (65-97%), TE (23-57%) e MFP (35-57%). A deteção da mutação V617F no gene JAK2 e de outras mutações funcionalmente similares, isto é, mutações no exão 12 do gene JAK2 e no exão 10 do gene MPL, foram recentemente incluídas pela Organização Mundial de Saúde,

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21

ALMEIDA, F. A. N. "AUTÊNTICAÇÃO de Ginseng Brasileiro Utilizando a Técnica de High Resolution Melting (hrm)." Universidade Federal do Espírito Santo, 2018. http://repositorio.ufes.br/handle/10/7113.

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Made available in DSpace on 2018-08-01T21:35:03Z (GMT). No. of bitstreams: 1 tese_12002_Dissertação_Francine Alves Nogueira de Almeida.pdf: 2009835 bytes, checksum: d864a01c75bbc516074e2befb4c57c5c (MD5) Previous issue date: 2018-02-20<br>À medida que a indústria de plantas medicinais cresce, a autenticidade de seus produtos é uma questão de segurança do consumidor e não pode ser negligenciada. O Ginseng brasileiro, por exemplo, se refere a duas espécies distintas, Pfaffia glomerata e Hebanthe eriantha. Apesar da similaridade entre essas duas espécies, o que dificulta a identificação morfoló

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22

Knápková, Monika. "Použití vysokorozlišovací analýzy křivek tání ke studiu baktérií mléčného kvašení." Master's thesis, Vysoké učení technické v Brně. Fakulta chemická, 2019. http://www.nusl.cz/ntk/nusl-401890.

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Currently, there is a growing interest in the use of probiotic products, and there are many of them in the market. With the growing interest, greater emphasis is placed on the identification of declared probiotic microorganisms. Precise identification of microbial composition is often a difficult task and it requires more advanced methods especially in the field of molecular diagnostics. The diploma thesis was focused on the verification of the presence od declared probiotic microorganisms in probiotic food supplements GS Laktobacily Forte 21, Biopron 9 Premium and Linex® Forte. DNA was isolat

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23

Chan, Ming-yan, and 陳明恩. "Rapid diagnosis of isoniazid resistant mycobacterium tuberculosis by high resolution melting (HRM) assay." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48333402.

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Mycobacterium tuberculosis (MTB) is a major infective agent causing human tuberculosis (TB) in the worldwide. Although tuberculosis can be treated by a six-month course of antibiotics, the prevalence of extensively drug-resistance TB (XDR-TB) made the disease becomes a global health problem. In addition to the conventional MTB detection methods, molecular methods become significant in drug resistant MTB detection which can enhance effective drug treatment. In this study, 200 MTB respiratory specimens were collected from patients with suspected tuberculosis in Tuen Mun Hospital in Hong Kong.

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24

Cury, Nathália Moreno. "Investigação de Mutações no Gene BRCA1 em Famílias Brasileiras com Suspeita da Síndrome Hereditária do Câncer de Mama e/ou Ovário." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-14062012-134410/.

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Cerca de 10% dos casos de câncer de mama e/ou ovário são caracterizados como hereditários, onde a presença de mutações germinativas no gene de suscetibilidade BRCA1 aumenta o risco de desenvolver esses cânceres durante a vida da mulher. O BRCA1 é um gene supressor tumoral envolvido na resposta de danos ao DNA, controle do ciclo celular, na remodelação da cromatina, ubiquitinação e regulação da transcrição. O presente estudo tem como objetivo central caracterizar as mutações do gene BRCA1 associadas a Síndrome Hereditária do Câncer de Mama e/ou Ovário (HBOC) em pacientes atendidos no Serviço de

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25

TERNER, MATHIEU. "Innovative materials for high temperature structural applications: 3rd Generation γ-TiAl fabricated by Electron Beam Melting". Doctoral thesis, Politecnico di Torino, 2014. http://hdl.handle.net/11583/2527509.

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In the aeronautics industry, the propulsion systems stand among the most advanced and critical components. Over the last 50 years, gas turbine aeroengines were subjected to intensive research to increase efficiency and reduce weight, noise and harmful emissions. Together with design optimization, breakthrough in materials science for structural applications triggered the development of the most advanced gas turbine engines. For low temperatures, basically ahead of the combustion section, lightweight Ti alloys are preferred for their good mechanical properties. For high temperatures instead, Ni

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26

Milazzo, Ruggero. "Doping of germanium by ion-implantation and laser annealing in the melting regime." Doctoral thesis, Università degli studi di Padova, 2015. http://hdl.handle.net/11577/3424114.

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Germanium is the main candidate for replacing silicon in active regions in future complementary metal-oxide transistors due to: (i) its higher mobility of charge carriers that makes it able to attain higher drive current; (ii) the availability of high-k materials, excellent substitutes for its unstable native oxide and (iii) its lower melting point that allows lower processing temperatures. However, a downscaling beyond 15-nm necessarily requires higher doping levels (higher than 1x10^20cm^-3) beyond the solid solubility of most of the dopants. In particular, n-type ultra-shallow junctions (US

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27

Handt, Maximilian Johannes Anton [Verfasser], Jörg T. [Gutachter] Epplen, and Bianca [Gutachter] Miterski. "Identifizierung von Mutationen im FMR1-Gen mittels Schmelzkurvenanalyse (High-Resolution-Melting) und DNA-Sequenzierung / Maximilian Johannes Anton Handt ; Gutachter: Jörg T. Epplen, Bianca Miterski." Bochum : Ruhr-Universität Bochum, 2017. http://d-nb.info/1125106638/34.

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28

Bélteky, Johan. "DNA methylations : A comparison of four genes between Red Junglefowl and White Leghorn." Thesis, Linköpings universitet, Molekylär genetik, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-69086.

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Domestication of animals has given rise to a great phenotypic divergence in selected animals and rapidly generated species of animals more accustomed to human contact and social interactions within the species. Previous studies in chickens (Gallus gallus) have managed to find behavioral and adaptive differences between Red Junglefowl (RJF) and White Leghorn (WL), differences inherent to the domestication process. These phenotypic changes could spawn from a variety of different genomic factors, including an epigenetic gene expression regulatory mechanism known as CpG methylation, a DNA modifica

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29

Daniels, Rachel Fath. "Genomic Tools Reveal Changing Plasmodium falciparum Populations." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:10931.

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A new era of malaria eradication programs relies on increased knowledge of the parasite through sequencing of the Plasmodium genome. Programs call for re-orientation at specific epidemiological markers as regions move from control towards pre- and total elimination. However, relatively little is known about the effects of intervention strategies on the parasite population or if the epidemiological cues correspond to effects on the parasite population. We hypothesized that genomic tools could be used to track population changes in Plasmodium falciparum to detect significant shifts as eradicatio

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30

Vale, Sílvia Daniela Costa. "Uma abordagem epigenética à determinação da idade de amostras biológicas: potenciais aplicações forenses." Master's thesis, Universidade de Aveiro, 2016. http://hdl.handle.net/10773/22398.

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Mestrado em Biologia Molecular e Celular<br>Ao longo do tempo de vida, um processo estocástico influenciado pela hereditariedade, fatores ambientais, estilo de vida e doenças conduz a alterações graduais de biomoléculas ao nível molecular e celular – o envelhecimento. Estas alterações podem auxiliar em investigações forenses na determinação da idade de indivíduos e, respetiva identificação, por métodos morfológicos, bioquímicos e moleculares. Contudo, estes marcadores biológicos possuem baixa precisão na estimativa da idade e inúmeras limitações práticas. Uma das modificações epigenéticas que

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31

Mahapatra, Sailendra Nath. "Determination of Heterogeneity by High-Resolution Seismic Reservoir Characterization in the Heavy Oil Temblor Reservoir of Coalinga Field, California." Diss., Virginia Tech, 2005. http://hdl.handle.net/10919/29377.

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The research focuses on analysis and subsurface imaging of siliciclastics rocks on steam-affected 3D poststack seismic data, merged from different vintages, from the Temblor Formation in the Coalinga heavy oil reservoir in the San Joaquin basin, California. The objective was identification, delineation, and demarcation of reservoir heterogeneities by seismostratigraphic and seismogeomorphic analysis. The proximity of the San Andreas Transforms greatly controlled basin evolution and caused substantial reservoir heterogeneity by changing the depositional environment from shallow marine to near-

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Jamile, Siham. "Polymorphisms in nuclear hormone receptor pathways in breast cancer." Thesis, Queensland University of Technology, 2017. https://eprints.qut.edu.au/108151/2/Siham_Jamile_Thesis.pdf.

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This project was an effort to investigate the relationship between potentially functional biomarkers in Nuclear Hormone Receptor Pathways and sporadic breast cancer susceptibility. The research involved investigation of nuclear hormone receptor co-activator 1 and 3 genes using different molecular genetics methods, resulting in the ability to test their potential effect on the nuclear hormone receptor pathway in sporadic breast cancer.

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Passaro, M. "COST-EFFECTIVE USE OF MOLECULAR MARKERS IN THE PRACTICAL RESOLUTION OF COMMON HORTICULTURAL CHALLENGES." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/479449.

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Genetic molecular markers (DNA markers) represent genetic differences between individual organisms or species placed directly into DNA sequence. They are widely used as powerful scientific instruments to accomplish different tasks, from genes mapping to forensic discrimination. The tremendous advance in DNA genotyping tools has lead to the development of impressive high- throughput technologies, such as Next Generation Sequencing platforms, that may revolutionize horticulture research and applications. However the cost of such technologies not always make them the most rationale approach, part

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Farrugia-Jacamon, Audrey. "Investigations moléculaires dans la mort subite du sujet de moins de 35 ans." Phd thesis, Université de Strasbourg, 2012. http://tel.archives-ouvertes.fr/tel-00804339.

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Les canalopathies cardiaques congénitales constituent la principale hypothèse diagnostique dans les cas de mort subite inexpliquée chez les sujets de moins de 35 ans. Notre travail a eu pour objectif demettre au point une stratégie de détection post-mortem des mutations sur les gènes connus pour être impliqués dans les canalopathies cardiaques, applicable en routine, à partir de la principale source d'ADN post-mortem disponible en France à savoir les prélèvements fixés au formol et inclus en paraffine (FFIP). A partir d'une cohorte de 12 cas, deux techniques de détection de variants génétiques

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Vaňásek, Jakub. "Imunomagnetická separace buněk bakterií mléčného kvašení pomocí magnetických nosičů funkcionalizovaných protilátkou." Master's thesis, Vysoké učení technické v Brně. Fakulta chemická, 2015. http://www.nusl.cz/ntk/nusl-217122.

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Immunomagnetic separation is based on binding of antibody with antigen, where antibody is bound to magnetic particle. In this thesis there were used particles of magnetic pearl cellulose with antiLactobacillus and antiBifidobacterium antibodies. Immunomagnetic separation method was optimalized and verified for its efficiency and specifity with bacterial and yeast cells. This cells were identified by polymerase chain reaction. Efficiency of immunomagnetic separation was verified on probiotic meat product, where Lactobacillus cells were isolated. With DNA from isolated Lactobacillus cells the hi

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Chen, Shuhui. "Étude des mutations des gènes KRAS, NRAS, BRAF, PIK3CA, MET et de l’expression des protéines P53 et PTEN et leurs implications cliniques dans le carcinome ovarien de haut grade." Thesis, Université de Lorraine, 2016. http://www.theses.fr/2016LORR0093/document.

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Objectifs: Malgré leur grande hétérogénéité histologique et moléculaire, la prise en charge clinique des carcinomes ovariens de haut-grade (COHG) reste peu variable. Le pronostic sombre de cette pathologie implique un réel besoin des nouvelles thérapies. Au-delà des marqueurs pronostiques histologiques classiques et des enquêtes oncogénétiques, l’objectif de cette étude a consisté à rechercher des cibles moléculaires pharmacologiquement recrutables afin de pouvoir proposer aux patientes un accès à la thérapie innovante et personnalisée. Méthodes: Cette étude a été réalisée chez 53 patientes (p

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ER, TZE-KIONG, and 余志強. "Molecular Diagnosis of Genetic Diseases by High-Resolution Melting Analysis." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/49092182181899780900.

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博士<br>高雄醫學大學<br>醫學研究所<br>100<br>Identifying and understanding genetic variation between populations and individuals is an important aim in the field of genomics. The unique genetic profile of an individual confers susceptibility to a given trait or disease. Therefore, there is a rapidly growing interest in feasible methods for mutation screening in life science research. High-resolution melting (HRM) analysis represents the next generation of mutation scanning technology and offers considerable time and cost savings prior to other screening method. HRM is a novel, homogeneous, close-tube, post

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Yang, Ching Yuan, and 楊晴媛. "Rapid Identification of Clinical Mycobacteria by High-resolution Melting Curve Analysis." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/43286758890797758663.

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碩士<br>長庚大學<br>醫學生物技術研究所<br>97<br>The conventional way for mycobacterial species identification usually requires an experienced personal and is time-consuming. In this study, we explored the combined use of real-time PCR and high-resolution melting (HRM) curve analysis for rapid detection and identification of clinically important mycobacterial species. At first, the HRM profiles for sixteen mycobacterial species, including M. tuberculosis (MTB), M. asiaticum, M. gordonae, M. kansasii, M. szulgai, M. avium, M. fortuitum, M. chelonae, M. intracellulare, M. marinum, M. terrae, M. xenopi, M. scr

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Lee, Ta Hsien, and 李達憲. "Rapid and sensitive human papillomavirus genotyping by high-resolution melting analysis." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/69433311808960630216.

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碩士<br>長庚大學<br>生物醫學研究所<br>98<br>Abstract Human papillomavirus (HPV), a small, non-enveloped, double-stranded DNA virus, is established as the key etiological factor in cervical neoplasm. More than 90% of cervical neoplasm is attributed to HPV infection. Evidence is accumulating that HPV genotyping may be useful for patient management in the future. To establish a fast and cost-effective high-resolution melting (HRM) assay system for the detection of the ten clinically most relevant high-risk HPV (HR-HPV) types. All procedures of HRM differential system are finished in single machine and cost o

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Hsu, Wei-Ting, and 徐瑋廷. "Rapid Identification of Allergenic Fungi Using High-Resolution Melting (HRM) Analysis." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/59355858603715680842.

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碩士<br>輔仁大學<br>生命科學系碩士班<br>104<br>In our living environment, excess amounts of airborne fungal spores, especially for the existences of allergic fungi, might have adverse effects on human health as the quality of air deteriorates. It is urgent to build a detection and identification platform and to assess the health risks and hazards for these allergic fungi. Traditionally, fungi are detedted and classfied mainly by their morphological characteristics and biochemical features, among others. This research is intended to employ the melting profiles as molecular fingerprints for fungal species det

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Lin, Jiunn-Yow, and 林俊佑. "Rapid Identification of Bacterial Food Poisoning Pathogens by High-Resolution Melting Curve Analysis." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/24203145926023478068.

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碩士<br>輔仁大學<br>生命科學系碩士班<br>101<br>Foodborne illness is one of the most common infectious diseases worldwide. Among them, food poisoning syndromes caused by bacterial pathogens are known to be very diversified and complicated. Therefore, how to clarify food poisoning pathogens as soon as possible is an important issue. The conventional methods used for the diagnosis of bacterial food poisoning pathogens are very time-consuming. However, with the advance of cross-cutting diagnostic technology, many new tools are available for an accurate and rapid bacterial detection and diagnosis. Among them, nu

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Chen, Guan-Hong, and 陳冠宏. "Study on the analysis of oral microbes by High-resolution melting (HRM) technology." Thesis, 2016. http://ndltd.ncl.edu.tw/handle/58668405382362309211.

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碩士<br>輔仁大學<br>生命科學系碩士班<br>104<br>The association of two oral diseases, dental caries and periodontal disease, and microbial communities present in human oral cavities has been well-documented for decades. However, a fast and powerful detection, identification platform for assessing oral microbes is needed for an effective disease management of above-mentioned diseases. The aim of this research is to develop a rapid, simple yet reliable, cost-effective screening method using the HRM(High-Resolution Melting) technology. The HRM technique, basing on detecting small differences in PCR melting curv

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Lin, Pin-Rung, and 林品瑢. "Rapid detection of common food-poisoning bacterial pathogens by high-resolution melting analysis." Thesis, 2016. http://ndltd.ncl.edu.tw/handle/80950573423772084630.

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碩士<br>輔仁大學<br>生命科學系碩士班<br>104<br>The World Health Organization had estimated that approximately two billion foodborne illness outbreaks from 1990 to 2010 caused 0.89 to 1.4 million deaths worldwide. In Taiwan, the main cause of foodborne diseases is resulted from ingestion of foodstuffs contaminated with bacteria and, therefore, how to rapidly detect and identify food-posioning bacteria is an important public health problem. Bacteria are classified traditionally using cultural characteristics and biochemical features, among others. This study, aiming to develop a technical platform providing a

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Chang, Chi-Yuan, and 張啟源. "Analysis of cytochrome P450 2A6 polymorphism in oral cancer by High Resolution Melting." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/58300457088035070366.

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碩士<br>高雄醫學大學<br>牙醫學研究所<br>99<br>ACKGROUND:CYP is now widely known as a family of enzymes metabolizing a wide variety of xenobiotics, including drugs and carcinogens. Human cytochrome P450 2A6(CYP2A6) is an important member of the CYPs and CYP2A6 has been reported that associated with risk of cancer Oral squamous cell carcinoma(OSCC) is one of the high lethality in Taiwan, to discover the cancer appear at the early year, we extremely need a fast, convenient and cheap way to screen OSCC. High Resolution Melting Analysis(HRMA) detect and distinguish wild type homozygote, heterozygote and mutati

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Tseng, Li-Ping, and 曾麗憑. "Association of Breast Cancer with Six Known SNPs by High-Resolution Melting Analysis." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/73370248602625660620.

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碩士<br>高雄醫學大學<br>醫學研究所<br>99<br>Genome Wide Association Study(GWAS) is an examination of all or most of the genes of different individuals of a particular species to see how much the genes vary from individual to individual. Different variations are then associated with different traits, such as diseases.We reffer GWAS results and choose 6 known SNPs related with breast cancer including Fibroblast growth factor receptor-2(FGFR2) rs1219648 and rs2420946、TNRC9 (Trinucleotide repeat containing 9) rs3803662、2q35 rs13387042、8q24 rs10505477、and Reelin (RELN) rs17157903 to examination by High Resoluti

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Su, Yu-Ling, and 蘇俞綾. "Detection of DNA Methylation Levels in Oral Cancers Using Methylation-sensitive High-resolution Melting Analysis." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/92749224243985977546.

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碩士<br>中國醫藥大學<br>醫學檢驗生物技術學系碩士班<br>98<br>DNA methylation plays an important role in the process of gene transcription and regulation. It has been reported that aberrant methylation renders the occurrence of cancer, including oral cancer. Methylation-Specific PCR (MS-PCR) followed by HRM analysis (MS-HRM) provides a highly sensitive method for the detection of low level methylation and quantification of methylated DNA. The object of this study is to establish the MS-HRM method to detect the DNA methylated level in clinical oral cancer samples. The detection limitation is 1.25 ng of bisulfite geno

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Huang, Shao Tung, and 黃少東. "Methylation Quantification of Tumor Suppressor Genes in NPC by Methylation-Sensitive High Resolution Melting Analysis." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/89909914537481784618.

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碩士<br>長庚大學<br>生物醫學研究所<br>100<br>Aberrant DNA hypermethylation of tumor suppressor genes (TSGs) inhibits gene expression and causes tumor progression. Since TSGs hypermethylation often used as biomarkers reflecting tumor progression, we used methylation specific high resolution melting (MS-HRM) PCR-based analysis to rapidly detect DNA methyation percentage of aberrant hypermethylated genes in nasopharyngeal carcinoma (NPC). We previously identified a novel hypermethylated gene, Gene A, in NPC biopsies. Gene A is a transcription factor which regulates body axes development. According to our

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BRACALINI, MATTEO. "Understanding Alien Pests: the Challenge of Complementary Research on Dryocosmus kuriphilus and Leptoglossus occidentalis in Italy." Doctoral thesis, 2015. http://hdl.handle.net/2158/957158.

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The results presented in this dissertation allow to better understand the outbreak dynamics of the ACGW, as well as the importance of different chestnut cultivar susceptibility. Furthermore, studying the role of native parasitoids is crucial to assess the impact of T. sinensis on endemic ACGW natural enemies once the exotic parasitoid colonizes these areas, either naturally or by future introductions. As regards the WCSB two highly specific DNA-based diagnostic protocols were devised, showing a promising sensitivity in the detection of WCSB biological traces. In addition, the potential of HRM

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Hsieh, Li-Ling, and 謝麗鈴. "High-Resolution Melting Analysis for Rapid Detection of BRAF and PIK3CA Gene Mutations in Colorectal Cancer." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/47701699472255969206.

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碩士<br>高雄醫學大學<br>醫學研究所<br>99<br>Epidermal growth factor receptor (EGFR) monoclonal antibody therapy is established in patients with wild-type KRAS colorectal cancer ; however, up to 50% of these patients do not respond to this therapy. To identify the possible causes of this treatment failure, we searched for mutations of several oncogenes involving in the EGFR-dependent signaling pathways. In this study, high resolution melting analysis (HRMA) was used to screen hot-spot mutations in the BRAF and PIK3CA genes in 182 colorectal cancer specimens. Direct sequencing was used to confirm HRMA result

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CHEN, YI PING, та 陳怡蘋. "Analysis of extended spectrum β-lactamasesKlebsiella pneumoniae blaSHV gene codon 238and 240 by high-resolution melting method". Thesis, 2012. http://ndltd.ncl.edu.tw/handle/07642309211452120941.

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碩士<br>高雄醫學大學<br>醫學研究所<br>100<br>The aim of this study was to investigate the blaSHV gene codon 238 and 240 polymorphisms in extended-spectrum beta-lactamase(ESBL) Klebsiella pneumoniae. In this study, the high-resolution melting (HRM) and DNA sequencing were used as the research tools. In the technology of HRM, the PCR products and the saturated DNA dye were used to record the result of the test of the sample by using the high-resolution melting curves.The blaSHV gene was isolated from ESBL- Klebsiella pneumoniae at Kaohsiung Municipal Hsiaokang Hospital from January, 2010 to December, 2011. A

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