|
|
The testing of familiar relationship in the identification genetics
Bobková, Alena ; Vaněk, Daniel (advisor) ; Zemanová, Zuzana (referee)
This bachelor's thesis analyses kinship testing in identification genetics, which is a discipline enabling the genetic identification of individuals and the determination of genetic relatedness between them. This thesis covers a wide range of applications from forensic analysis through genealogical studies to biodiversity conservation. This field has been rapidly growing and gaining on importance since the 1980s, when the foundations of DNA fingerprinting were laid based on the discovery of hypervariable minisatellite regions in the genome. This thesis aims to provide an overview of methods and techniques that are used for genetic identification and kinship testing. The thesis discusses genetic markers such as STRs or SNPs, which are the basis for genetic profiling, are discussed. In addition statistical methods for evaluating genetic match and methodologies for determining the probability of kinship are also discussed. Finally, practical applications of identification genetics are presented, including its use in forensic science or in case of solving genealogical questions. The potential and future development of the technologies and their impact on society is discussed at the end of the thesis. Thus, the thesis contributes to a better understanding of the importance and opportunities of...
|
|
|
Uniparental disomy in the human karyotype
Koplíková, Patricie ; Drábová, Jana (advisor) ; Šípek, Antonín (referee)
Chromosome pairs affect how our body works. Normally, a baby gets one copy of each chromosome from each parent. This means one copy from mother, and the other copy from father. In rare cases, a baby may get two copies from the same parent and none from the other. This phenomenon is called uniparental disomy (UPD). Uniparental disomy is a major topic for molecular geneticists and cytogeneticists. There are several mechanisms that lead to UPD, for example: gamete complementation, monosomy rescue, trisomy rescue or post-fertilization error. The consequences of UPD can be diverse and depend on the specific chromosome and genetic content of the affected region. An abnormal phenotype is manifested if the UPD occurs on a chromosome that is subject to genomic imprinting. An abnormal phenotype can also occur due to mutations. Among the most common syndromes associated with UPD are Prader-Willi syndrome and Angelman syndrome, which I focus on in my theses. I consider the greatest contribution of my theses to be the creation of a comprehensive overview of the effects of UPD across all human chromosomes.
|
|
|
Effect of surface texturing on rolling contact fatigue of rubbing surfaces
Popelka, Jakub ; Čermák, Jan (referee) ; Křupka, Ivan (advisor)
Diploma thesis describes influence of directed modificated topography of frictional surfaces on fatigue wear non-conformal incurvate solids. It was created 3D parametric model of experimental test rig in modelling environment Autodesk Inventor. With the help of model was designed and carried reconstruction of experimental test rig so to possible obtain repeatable results under the sliding conditions of frictional surfaces. It enabled show influence of surface iregularities (dents) frictional surfaces on contact fatigue service life in conditions mixed lubrication regime and different values of slide to roll ratio.
|
|
| |
|
|
The impact of chimerism in DNA-based forensic analysis
Kalousková, Martina ; Šimková, Halina (advisor) ; Vaněk, Daniel (referee)
The presence of two or more zygotically distinct lineages in a single person refers to chimerism. All types of chimerism have positive as well as negative impact on health of human chimeras. Both congenital and acquired chimerism must be taken into account in diagnostics, genetics but also in the forensic DNA analysis. This phenomenon has impact on the results of individual identification and kinship determination. With the forensic analysis it is possible to detect chimerism of people under investigation. Even though these situations are rare, some cases of wrong identification proving the consequences of the chimerism are recorded.
|
|
|
Rapidly mutating Y-STRs analysis as a tool for forensic investigations, genetic genealogical applications and molecular anthropology
Jakub, David ; Šimková, Halina (advisor) ; Doubková, Klára (referee)
Compared to standard Y-STR markers commonly used in forensics and bioarchaeology, rapidly mutating Y-STR markers (RM Y-STR) have a significantly higher haplotype diversity and lineage resolution abilities in world populations. They form a novelty in these fields. This paper will attempt to clarify their origin, function, and efficacy in forensic genetics, genealogy, and molecular anthropology by looking at the Y chromosome and its characteristics that allow its use in the mapping of populations, individual male lineages, and identifying male perpetrators of sexual violence. By looking at other polymorphisms of the Y chromosome, especially Y-SNP markers, we can see in which studies each type is used most effectively. In the end, it will be clarified whether the use of RM Y-STR markers is beneficial to each field, whether they make standard Y-STR markers redundant, or whether they are themselves of no substantial use in comparison.
|
|
|
Teorie relativity - jak na středoškolské úrovni rozvíjet její pochopení
Ryston, Matěj ; Dvořák, Leoš (advisor) ; Novotný, Jan (referee) ; Šlégr, Jiří (referee)
The goal of this doctoral thesis is to find and implement possible ways to facilitate secondary school students' understanding of relativity. The thesis starts with an overview of existing literature as well as ongoingstudies concerned with teachingrelativityto secondarystudents, especially in connection with possible misconceptions and other learning difficulties. Furthermore, it maps available book and internet sources on relativity in both Czech and English that students might use outside of school. A research of Czech curricular documents for upper secondaryeducationandan online surveyamonggymnasium physics teachers were used to assess the current situation of teaching relativity in these schools. Based on the mentioned research, it was decided to develop learning resources focused on General Relativity. Following an analysis of a selection of relativity textbooks on this topic, a study website for interested students as well as a teaching-learningsequence for teachers to adapt in their own teaching were developed. The development and assessment of these materials are described in detail.
|
|
|
Application of Capillary Electrophoresis in Forensic Molecular Genetic Investigation
Grafnetterová, Anna ; Doubková, Klára (advisor) ; Coufalová, Pavla (referee)
5 Abstract The capillary electrophoresis (CE) is an analytical method based on the principle of the traditional plate electrophoresis. Modern ways of fluorescence marking and the detection result in the higher reliability of analyses as well as in more precise results. The utilization of this method is wide within a lot of science fields. In special cases this method can even replace methods used so far, i.e. HPLC. The CE is mainly used in the forensic investigation in particular for person identification based on the DNA analysis of the even minimal sample amount. The STR analysis is an example of such examination. It uses short tandem repeats with high variability within the population. Commercial companies e.g. Promega Corporation, Applied Biosystems etc., develop corresponding instrumentation, software and kits which are important for receiving correct data. As a final result it is obtained DNA profile evaluated by comparison of samples from the "crime scene" with the reference samples. Besides the using in the human domain the DNA profiles are often used in the veterinary practice, in animal (cats, dogs, horses, cattle etc.) raising or breeding, for improving the particular characteristics. Key words: capillary electrophoresis fluorescent labeling STR STR analysis DNA profil
|
|
|
Y Chromosomal Characteristics of the Modern Rural Population in Klatovy Region
Doležalová, Veronika ; Ehler, Edvard (advisor) ; Stenzl, Vlastimil (referee)
Usage of genetic markers in non-recombining part of chromosome Y has been shown as a eligible tool for a study of history, diversity and migration of population. Applicable markers of chromosome Y are SNP and STR polymorphisms. There were collected 53 unique samples of DNA as a object of this work from unrelated origin males from 9 villages around Klatovy. Samples have been analyzed and its values have been determined by using the 17 STR markers by AmpFLSTR® Yfiler® Direct Kit. In total I have observed 7 different haplogroups. I have resulted samples from villages around Klatovy and they were analyzed by AMOVA. I have compared samples with the surrounding populations in neighborly Federal Republic of Germany, Austria, Central and South Bohemia. There were no significant differences founded in the genetic profile of this population to the surrounding populations.
|
|
|
The increased diagnostic efficiency of QF-PCR for aneuploidy of amniotic fluid
Sedláková, Zdeňka ; Macek, Milan (advisor) ; Daňková, Pavlína (referee)
Quantitative fluorescence polymerase chain reaction (QF-PCR) is a molecular genetic method based on the amplification of microsatellites (Short tandem repeats, STR) and measurement of the peak heights of amplicons in the electropherogram. Currently, the QF-PCR deemed reliable, fast, and inexpensive method that is gradually replacing conventional cytogenetic analysis of aneuploidy (examination of long-term cultures of amniotic fluid). However, in certain cases it is impossible to determine the parental origin and meiotic aneuploidy by QF-PCR. The aim of this work was to verify the new dinucleotide STR markers on chromozomes 13, 16, 18, 21, and 22 and further increase the diagnostic efficiency of QF-PCR retaining other STR markers on chromozome 15, 16, 22 and to determine the population and the analytical characteristics of these markers. For all dinucleotide STR markers stutter occurred in high frequency and therefore there were found not to be suitable for routine diagnostics. STR markers for chromozomes 15, 16 and 22 were tested on 100 patients. We selected four informative markers for both chromozome 16 and 22, and three markers for chromozome 15. Thus, I expanded set of diagnostic STR markers in this thesis.
|
guest ::
