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Recombination between the gene and pseudogene for glucocerebrosidase as a mechanism of mutation generation in Gaucher disease
Peková, Barbora ; Hřebíček, Martin (advisor) ; Schierová, Michaela (referee)
Gaucher disease is an autosomal recessive disorder caused by the deficiency of β-glucocerebrosidase. Some Gaucher patients carry in their β-glucocerebrosidase genes complex mutations which apparently arose by a recombination with the non-functional β-glucocerebrosidase pseudogene. Recombination between genes and their corresponding pseudogenes plays a role in the development of other hereditary human diseases. Mutant alleles formed in male and female meiosis are a source of these variations in the gene pool. The study of frequency and scope of recombination events in human disease-associated genes in the gametes is of importance for evaluation of the disease burden in the population. The evaluation of the scope of single recombination events in the β-glucocerebrosidase gene in human gametes is technically challenging. Novel technologies such as next-generation sequencing, nanopore sequencing or droplet digital PCR may have advantages over previously used techniques in this application. Key words: recombination, gene conversion, pseudogene, β-glucocerebrosidase, complex alleles, Gaucher disease
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Electron Ion Recombination in Low Temperature Plasma
Dohnal, Petr ; Glosík, Juraj (advisor) ; Čurík, Roman (referee) ; Novotný, Oldřich (referee)
The presented work focuses on study of electron - positive ion recombination in low temperature plasma. The principal method used were Flowing afterglow with Langmuir probe and Stationary afterglow with Cavity Ring-Down Spectrometer. For the first time electron and neutral assisted collisional radiative recombination of Ar+ ions was studied in temperature range of 50 - 200 K. Resulting ternary recombination rate coefficients are in good agreement with theoretical predictions. Recombination of H3 + and D3 + ions with electrons was studied in the temperature range of 50 - 300 K and binary and ternary recombination rate coefficients were obtained. The effect of nuclear spin on recombination of H3 + ions with electrons was studied in the temperature range of 80 - 200 K and state selective recombination rate coefficients were obtained for ortho- and para-H3 + . Results show that at 80 K para-H3 + recombines with electrons substantially faster than ortho-H3 + .
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Study of reactions of simple ions in low temperature plasma
Kálosi, Ábel ; Plašil, Radek (advisor) ; Picková, Irena (referee)
The subject of this thesis is the study of the probe diagnostic method of low temperature plasma. The basis of Langmuir probe diagnostics in terms of appli- cation on apparatus CryoFALP II for the study of reactions of simply particles, the principle of the FALP technique and the experimental method of undertaken measurements are described. As a part of the thesis a package of evaluation pro- grams were compiled, which are ready to be a part of the measuring system as described in the thesis. Main results concern verification of the proper application of Langmuir probe technique in conditions characteristic for the apparatus, argon plasma was chosen as the medium of the measurements, where the characteristic loss process is ambipolar diffusion of charged particles. The application of the acquired knowledge is shown on recombination in oxygen plasma.
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Recombination centers in semiinsulating CdTe
Zázvorka, Jakub
Title: Recombination centers in semiinsulating CdTe Author: Jakub Zázvorka Department / Institute: Institute of Physics of Charles University Supervisor of the master thesis: prof. Ing. Jan Franc, DrSc., Institute of Physics of Charles University Abstract: The properties of CdTe for application as a radiation detector are influenced through the presence of deep levels in the bang gap. These energy levels complicate the charge collection and the detector efficiency. Contactless resistivity mapping (COREMA) represents a good option for material characterization without the necessity of metal contacts application. The time-dependent charge measurement was investigated on an adjusted apparatus in FMF Freiburg. Theoretical model of charge transport based on band bending on the sample surface was proposed and a non-exponential behavior was calculated. Using this, the resulted parameter tendencies and their connection with deep level trap or recombination center were explained. A correlation was observed between resistivity, photoconductivity and a near midgap level photoluminescence. Parameter profiles were explained using the theory of Fermi level shift relative to the near midgap level. Three deep levels were observed on samples grown at the Charles University in Prague. Their photoluminescence supports the...
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Centra rekombinace v semiizolačním CdTe
Zázvorka, Jakub ; Franc, Jan (advisor) ; Fiederle, Michael (referee)
Title: Recombination centers in semiinsulating CdTe Author: Jakub Zázvorka Department / Institute: Institute of Physics of Charles University Supervisor of the master thesis: prof. Ing. Jan Franc, DrSc., Institute of Physics of Charles University Abstract: The properties of CdTe for application as a radiation detector are influenced through the presence of deep levels in the bang gap. These energy levels complicate the charge collection and the detector efficiency. Contactless resistivity mapping (COREMA) represents a good option for material characterization without the necessity of metal contacts application. The time-dependent charge measurement was investigated on an adjusted apparatus in FMF Freiburg. Theoretical model of charge transport based on band bending on the sample surface was proposed and a non-exponential behavior was calculated. Using this, the resulted parameter tendencies and their connection with deep level trap or recombination center were explained. A correlation was observed between resistivity, photoconductivity and a near midgap level photoluminescence. Parameter profiles were explained using the theory of Fermi level shift relative to the near midgap level. Three deep levels were observed on samples grown at the Charles University in Prague. Their photoluminescence supports the...
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Semiconductor properties
Řihák, Pavel ; Frk, Martin (referee) ; Špinka, Jiří (advisor)
This bachelor's project deals with methodology for determination the semiconductors parameters. Particularly, it deals with methods of diffusion length measurrement. Various methods of measurement were studied for this purpose and selected the most suitable one. Which was carried measurements on a sample of silicon using IR power LEDs.
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Fundamental properties of semicomductor materilas
Kahánek, Tomáš ; Jirák, Josef (referee) ; Špinka, Jiří (advisor)
This work deals with fundamental properties of semiconductors materials and methods of their measuring. This work is focused on non-contact methods using light to generate electric charge in semiconductor. Tests were focused on measuring characteristics of PN transition light diods and semiconductor specimen with big resistivity, there was founded absorption edge of silicon.
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Lifetime measurement of current carriers in silicon solar cells structures
Macháček, Martin ; Hégr, Ondřej (referee) ; Boušek, Jaroslav (advisor)
This thesis deals with a lifetime measurement of current carriers in silicon solar cell structures. In the first chapter there is a description of several recombination models and their participation at a final effective lifetime value. By using these recombination models in a computer simulation it is possible to receive approximate evaluation of some important silicon solar cell structure parameters. The PC1D simulation program was used for this thesis. For the lifetime measurement of real test-wafers two methods were used: QSSPC (quasi-steady-state photoconductance) and MW-PCD (microwave photoconductance decay). There is a detail description of these methods, used measurements machines and differences between both of them in the chapter four. The main objective of the thesis is mentioned in the last chapter, which is mainly focused on a chemical passivation of silicon wafers and deals with a problem of post-passivation wafer cleaning. There are three passivation techniques mentioned: the iodine in ethanol solution, the iodine and polymer in ethanol solution and the quinhydron in methanol solution. In two cases a results, that are adequate to return the tested wafers in the manufacture process, were achieved.
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