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Genotyping of locu CSN1S1 and association analysis
BRABEC, Václav
The first aim of this work was to genotype polymorphism locus CSN1S1. This gene contains a transition in the exon XVII. This transition changes glycine to glutamine in the position 192 of the final protein chain. This substitution creates two polymorphism variants of this gene: variant B and C. In our study, two genotypes BB and BC were observed. The second aim of this work was evaluation of the relationship among observed genotypes and milk properties and technological milk traits, e.g. curd firmness. The analysis was performed on 234 samples from Holstein Friesian cattle and Czech fleckvieh cattle sampled on farms in the South Bohemia. Genotyping was performed using molecular biology techniques PCR and RFLP. Restriction endonuclease HpHI was used for RFLP. Fragments were visualized on agarose gel. In our monitored population the frequencies of the genotypes BB and BC were 0,888 and 0,112. Association analysis was performed using SAS analytics software. Provable influence of the CSN1S1 locus polymorphism on studied traits was not observed.
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Evaluation of genetic strains polymorphism of \kur{Beauveria bassiana} based on analyses of using microsatellite markers
PUDIL, Jiří
Microsatellites, or Simple Sequence Repeats (SSRs), are highly polymorphic loci present in nuclear and organellar DNA that consist of repeating units of 1-6 base pairs in length. Microsatellites are very effective molecular markers, which allow us to examine various aspects of organisms. The aim of thesis is to carry out analyzes of microsatellites and describe the genetic relationships between individual strains and monosporic isolates, which were derived from these strains. Usind SSR I would like to asses the degree of genetic polymorphism between \kur{Beauveria bassiana} strains, collected during monitoring in the locality of Černá Hora in Šumava. I am also trying to optimize the method of DNA isolation and method of microsatellites analysis. 44 strains of \kur{Beauveria bassiana} isolated from \kur{Ips typographus} were analyzed in total using four primers. Overall, the results that I obtained show high similarity of evaluated strains, and therefore low level of genetic polymorphism. For further work it would be appropriate to enlarge the area, which will be sampled and include sets of strains that were obtained from different developmental stages of the host, as well as other reference strains of entomopathogeníc fungi collected from other localities with similar conditions. For more detailed study it would be useful to use the analysis of ribosomal DNA. Thus selected and evaluated population is likely to provide a more veritable image of strain diversity in observed area.
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Polymorphism of drug metabolizing enzymes as a potential target of prevention of serious treatment complications in neonates and infants
Hronová, Karolína ; Slanař, Ondřej (advisor) ; Paluch, Zoltán (referee) ; Hladík, Michal (referee)
Univerzita Karlova 1. lékařská fakulta Studijní program: Biomedicína Studijní obor: Preventivní medicína MUDr. Karolína Hronová Polymorfismus genů účastnících se v metabolismu léčiv jako potenciální cíl prevence závažných komplikací léčby u novorozenců a dětí Polymorphism of drug metabolizing enzymes as a potential target of prevention of serious treatment complications in neonates and infants Disertační práce- ABSTRAKT V ANGLICKÉM JAZYCE Školitel: prof. MUDr. Ondřej Slanař, Ph.D. Konzultant: MUDr. Pavla Pokorná, PhD. Praha, 2018 Abstract Background and aims: The safety of analgosedative drugs includes drug interactions, adverse effects, withdrawal syndrome and drug dependence are factors that significantly affect morbidity and mortality. Its prevention is critical for quality improvement of care in paediatric patients. The aim of the thesis was to evaluate the prediction of efficacy and safety of analgosedative drugs sufentanil, midazolam, tramadol and valproic acid in neonates and children based on the occurrence of selected pharmacogenetic biomarkers. The incidence of drug interactions of phenobarbital with other analgosedative drugs has also been evaluated. Methodology: The thesis is based on two studies conducted on Intensive and Resuscitation Care Unit of the Clinic of Paediatric and Adolescent...
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Vliv polymorfismu kandidátního lokusu na technologické vlastnosti mléka
VAŇKOVÁ, Adéla
The aim of this diploma thesis was to investigate the influence of milk betacasein locus (CSN2) polymorfic variants on production characteristics and milk technological qualities in Czech Simmental cattle and Holstein cattle. DNA extracted from milk of 702 cows was genotyped using PCR and RFLP methods. The genotypes A1A1, A1A2, and A2A2 had the following distribution within the population studied: A1A1 in 11,40 %, A1A2 in 8,46 %, and A2A2 in 50,14 % cows. The studied milk parameters were the milk yield (kg), protein and fat percentage and protein and fat yield (kg). The statistical evaluation was made STATISTICA 12 program. We found no statisticaly significant influence of CSN2 genotype on the selected milk yields. The results might be biased by the relatively low amount of individuals studied. Research will continue within the QJ1510339 and GAJU028/2019/ Z grant.
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Risk behavior based on the gene allele A1 for dopamine receptor D2.
MICHL EGRIOVÁ, Simona
The studies that have been published since 1990 which are dealing with the relationship of the genetic polymorphism of the dopamine D2 receptor gene (DRD2) in relation to alcoholism or other disorders or diseases have brought contradictory results. These results have led the author of this thesis to closely investigate the relationship between the genetic polymorphism of the A1 allele gene for DRD2 and hazardous alcohol consumption in the Czech Republic with a focus on the artistic area. A total of 29 participants (15 artists and 14 "non-artists") were involved in the study. The criterion for selecting the examined sample was the type of professional focus (artistic, non-artistic). A genetic analysis of blood (PCR-RFLP method) was used to determine the genotype. Only in the "non-artistic" group the presence of the genetic polymorphism of the A1 allele for DRD2 was found (a predisposition to a risk behavior in relation to alcohol). Additional parameters were found using EEG, an AUDIT test and a temperament questionnaire. A statistical analysis confirmed an association between the appearance of the A1 allele for DRD2 and a higher amplitude of the P300 component (p = 0.0000421). Statistically proven riskier alcohol consumption was found among introverted artists (n = 9) in the AUDIT test (p = 0.02298).
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Polymorphism of drug metabolizing enzymes as a potential target of prevention of serious treatment complications in neonates and infants
Hronová, Karolína ; Slanař, Ondřej (advisor) ; Paluch, Zoltán (referee) ; Hladík, Michal (referee)
Univerzita Karlova 1. lékařská fakulta Studijní program: Biomedicína Studijní obor: Preventivní medicína MUDr. Karolína Hronová Polymorfismus genů účastnících se v metabolismu léčiv jako potenciální cíl prevence závažných komplikací léčby u novorozenců a dětí Polymorphism of drug metabolizing enzymes as a potential target of prevention of serious treatment complications in neonates and infants Disertační práce- ABSTRAKT V ANGLICKÉM JAZYCE Školitel: prof. MUDr. Ondřej Slanař, Ph.D. Konzultant: MUDr. Pavla Pokorná, PhD. Praha, 2018 Abstract Background and aims: The safety of analgosedative drugs includes drug interactions, adverse effects, withdrawal syndrome and drug dependence are factors that significantly affect morbidity and mortality. Its prevention is critical for quality improvement of care in paediatric patients. The aim of the thesis was to evaluate the prediction of efficacy and safety of analgosedative drugs sufentanil, midazolam, tramadol and valproic acid in neonates and children based on the occurrence of selected pharmacogenetic biomarkers. The incidence of drug interactions of phenobarbital with other analgosedative drugs has also been evaluated. Methodology: The thesis is based on two studies conducted on Intensive and Resuscitation Care Unit of the Clinic of Paediatric and Adolescent...
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Polymorfismus kandidátního lokusu a jeho vliv na technologickou jakost mléka
ŠVARCOVÁ, Monika
This thesis was developed to study the influence of polymorphic variants of the milk protein locus betacasein (BCN) on the production and technological quality of the milk. The genotypes of -casein (CSN2 gene) were determined by the PCR-RFLP analysis. The determination of genotypes AA, AB and BB was made in 731 dairy cows. The results of genotype frequencies showed that genotype BB represented roughly five times more frequently than the heterozygotes AB and thirty times more frequently than AA homozygotes in the population under study. The effect of the BCN genotypes on the production and composition of milk was analyzed in 418 samples. No statistically significant effect of genotypes or alleles was found in this section. Subsequent analysis of the influence of genotypes and allele on the coagulation and the determination of titratable ability of the milk was performed on 119 samples. The results did not confirm a statistically significant effect on milk coagulation. The yogurt test showed genotypic effects. This could mean that genotype AA is associated with higher milk acidity and AB genotype with lower. However, the results could be affected by lower frequency of the population and an uneven frequency of genotypes in the population surveyed.
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Genetic polymorphism in the NBS1 gene for diagnosis and treatment of patients with cervical carcinoma
Rataj, Michal ; Beránek, Martin (advisor) ; Šimůnek, Tomáš (referee)
Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Bc. Michal Rataj Supervisor: Doc. PharmDr. Martin Beránek Ph.D. Title of diploma thesis: Genetic polymorphism in the NBS1 gene for diagnosis and treatment of patients with cervical carcinoma The aim of this diploma thesis is to find optimal methods for screening of mutation 657del5 and estimate frequency of heterozygotes and homozygotes for the mutation 657del5 in population of the Czech republic. In the first section of the theoretical part is comprehensively pointed out the effect of factors affecting the integrity of genetic information and the formation of mutations in DNA. On the contrary, the second section devotes to the ability of cells to respond to this damage. In detail, the thesis devotes to the NBS1 gene and its product nibrin. In the complex MRE11/Rad50/NBN nibrin is an important member of the mechanisms of repair of double strand breaks NHEJ (non-homologous end joining) and HR (homologous recombination). The thesis is focused on nibrin and its functions, but also to mutations that prevent these functions and causes genetic disease Nijmegen breakage syndrome. Nibrin is translated from the sequence of the NBS1 gene. Gene NBS1 appears in population with several various...
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Association analysis of the selected locus influencing the technological quality of cows' milk
NOVÁKOVÁ, Petra
The aim of the thesis is to study the influence of the milk protein beta-lactoglobulin on the milk renneting properties. Based on the polymorphisms in -lactoglobulin gene (BLG), the genotypes AA, AB and BB were defined by the method PCR-RFLP in the case of 730 dairy cows. The results of the genotypes analysis show that in the studied population the heterozygotes AB occur approximately eleven times more often than homozygotes BB and thirty times more often than homozygotes AA. The allele A frequency was 0.4732 and the allele B 0.5268. The genotype BLG influence on production traits of milk was analysed in the aggregate of 429 milk samples. The statistically demonstrative allele B influence on the percentage of proteins representation was found only in one group of dairy cattle from farm Sedlec. The alleles BB were associated with lower values of these parameters. The statistically significant difference influenced by the genotypes or the gene BLG alleles was not found in any other measurement. In the thesis the testing of milk renneting properties by the rennet coagulation time (RCT) and the determination of titratable acidity in milk was made on 51 samples. The results show that the BLG genotypes had no influence on the RCT. In the determination of titratable acidity in milk results the genotype influence appeared and the p-value is lower than the given significance level = 0.05. It could mean that the AB genotype is connected with the higher milk acidity. However, the results can be distorted by the low numbers of the population.
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The analysis of chosen candidate loci influencing commercial properties and animal health
ČUNÁTOVÁ, Štěpánka
The aim of this thesis was to analyze the polymorphism in position -371bp (related to ATG start codone) of MSTN gene, SNP in position 1984bp of MYF5 gene and influence of these polymorphisms on tenderness, water holding capacity, pH and color of meat. Samples (241) of bull meat of Czech pied cattle were used for analysis. PCR-RFLP method was applied to genotype MSTN and MYF5 genes. For polymorphisms detection was used restriction endonucleases DraI (for MSTN gene) and TaqI (for MYF5 gene). From established genotypes were computed their frequencies and alleles frequencies. The frequencies of genotypes in MSTN gene were AA=0,729, AB=0,258, BB=0,013 and alleles frequencies were A=0,858, B=0,142. The frequencies of genotypes in MYF5 gene were AA=0,181, AB=0,542, BB=0,278 and alleles frequencies were A=0,452 a B=0,548. Using statistical analysis, the influence of genotypes of MYF5 gene on the water holding capacity, pH and the color of meat was determined.
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