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Hereditary hemochromatosis - Importance of molecular biology analysis of S65C mutation in HFE gene
Putzová, Daniela ; Beránek, Martin (advisor) ; Šimůnek, Tomáš (referee)
Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Bc. Daniela Putzová Supervisor: Doc. PharmDr. Martin Beránek, Ph.D. Title of diploma thesis: Hereditary hemochromatosis - Importance of molecular biology analysis of S65C mutation in HFE gene Background: The aim of this work was to establish an investigative method PCR-RFLP for the detection of the mutation S65C in HFE gene which can be used for an analysis of real clinical samples and for determination of their S65C mutation occurrence. Methods: In this study, 140 samples from patients were analyzed (68 % (n = 95) of samples from men, 32 % (n = 45) from women, in the age from 20 to 83 years) for the presence of the mutation S65C in HFE gene using PCR-RFLP method. For amplification of required segments of HFE gene, primers (5'- ACA TGG TTA AGG CCT GTT GC - 3', 5'- GCC ACA TCT GGC TTG AAA TT - 3') were used. The enzyme HInfI was used for the restriction analysis. Results: S65C mutation allelic frequency was determined as 1.8 % in this cohort of patients. Five patients (3.6 %) were heterozygous for the mutation S65C; two of them (1.4 %) were identified as C282Y/S65C compound heterozygotes. Conclusions: PCR - RFLP procedure was successfully established for the determination of S65C mutation...
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System for Dust Grain Levitation
Beránek, Martin ; Němeček, Zdeněk (advisor) ; Čermák, Ivo (referee)
Laboratory simulations of dust grain charging can provide an unique data about inuence of the separate charging processes, which are inseparable otherwise. Knowledge of the inuence of individual processes is important for understanding charging dust grains in real conditions. For laboratory experiments the electrodynamic trap, in which is captured single dust grain, is used. We have analysed several particular trap geometries and their inuence on the accuracy of measurements in this work. We deale mainly with nding of the electrode layout, which forms an open trap and therefore minimises unwanted electron emission from electrodes. We have found such modication of a linear quadrupole, which allows to trap the charged grain in the axial direction too. The calculation shows that the modication should not have a negative inuence on the electric eld with respect to the measuring of the grain specic charge.
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Thiopurine methyltransferase - clinical importance of genotyping and phenotyping
Černá, Blanka ; Beránek, Martin (advisor) ; Šimůnek, Tomáš (referee)
Charles University in Prague Faculty of pharmacy in Hradec Králové Department of Biochemical science Candidate: Blanka Černá Supervisor: Doc. PharmDr. Martin Beránek, PhD. Title of Diploma Thesis: Thiopurine S-methyltransferase - clinical importace of genotyping and phenotyping. Thiopurine S-methyltransferase catalyzes S-methylation thiopurine's drugs such as 6-mercaptopurine and thioguanine. TPMT genetic polymorphisms represent an important role in clinical pharmacogenetics. The differences in TPMT activity result from mutations in gene for TPMT. The polymorphisms are important factor in efficacy of treatment by thiopurine drugs. Patients inheriting low activity of enzyme TPMT have mutated allels, patients inheriting high activity of TPMT are usualy wild types. TPMT gen was genotypized by method real-time PCR in volunteers (n=55) with autoimmune diseases. The average of patient's age was 16,7 years. From blood collected into EDTA DNA was isolated by using QIAmp Mini Kit (Quiagen, Germany) and it was used for genotyping of TPMT. Genotyping was carried out by real-time PCR in LightCycler (Roche, Germany). TPMT was phenotypized in Hradec Králové in Medical Faculty of Charles University in Department of Pharmacology. The lysate of suspension of erythrocyte was used for phenotyping (The blood was...
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analýza trhu mobilních operátorů
Beránek, Martin ; Vávra, Oldřich (advisor) ; Koudelka, Jan (referee)
marketingový výzkum a role informací, etické aspekty realizace marketingového výzkumu. Analýza studentských tarifů, popis nabízených mobilních služeb - gsm banking, e-mailové služby, icq v mobilu charakteristika mobilní sítě v ČR, metody marketingového výzkumu - dotazování, pozorování. Dotazník - druhy otázek, zásady při tvorbě otázek, struktura a forma dotazníku
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