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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.
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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.
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Detection of CNV polymorphisms in regions of forensically significant STR loci in the Czech population
Salihagić, Lejla ; Korabečná, Marie (advisor) ; Šimková, Halina (referee)
DNA analysis aimed at individual identification of persons is based on the examination of a panel of STRs (Short Tandem Repeats). These polymorphic loci were selected on the basis of broadly conceived international testing and the frequencies of individual alleles across different ethnicities are known. Currently, attention is also paid to polymorphisms involving larger regions of DNA - the so- called Copy Number Variants (CNV). According to the literature (Repnikova et al., 2013), it turns out that these CNVs can also affect areas of forensically significant STR loci, resulting in, for example, the deletion of one of the alleles. The examined person, then in such an affected locus is not a homozygote, but a hemizygote. Otherwise, when duplication event of one of the alleles occurs, a tri-allelic STR arises. Such situations can then distort the result of individual identification, or even the correct evaluation of kinship relations. In the scope of master's thesis, a methodology based on digital droplet PCR (ddPCR) will be established, which will allow verification in cases where routinely obtained DNA profiling results in the suspicion of the presence of a third allele in one of the STR loci. Samples for testing will be obtained in cooperation with the Institute of Criminology in Prague on the...
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SNP polymorphisms of Y chromosome in the population of african fulani people
Bučková, Jana ; Černý, Viktor (advisor) ; Šimková, Halina (referee)
Markers on the non-recombining region of chromosome Y is a useful tool for study of diversity between populations. SNPs are the most commom polymorphisms in human genome. Mutation rate of SNPs is very low and so they may be used as genetic markers in evolutionary and population studies. We have analyzed 205 unrelated men from 11 Sub-Saharan Fulani's subpopulations. Fulani are an ethnic group of people spread over many countries, mainly in West Africa. Our samples are from Tindangou area, Banfora area (Burkina Faso), Bongor area, Linia area (Chad), Diafarabé area (Mali), Tcheboua area (Cameroon), Banfora area, Diffa area, Zinder area, Ader area and Abalak area (Niger). Using kit Signet Y-SNP Identification Systems and Luminex instrument with LabMAP Luminex Technology we detected particular Y chromosome's SNPs. LabMAP Luminex Technology is universal array platform, which as a probe using fluorescent polystyrene microspheres. We have observed 12 different haplogroups. Haplogroup E, which is typical African haplogroups, is determined with derivated allele in polymorfism M96. We have detected haplogroup E in maximum of 89,3% in the Fulani's subpopulations. In 7,8% we have detected haplogroup R, which is characteristic of populations in the Euroasia. Gene pool of Fulani's population is influenced with a...
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Selection of appropriate INDEL polymorphisms on the X chromosome to detect the fetal fraction of free circulating DNA during pregnancy with female fetuses
Veselá, Barbora ; Korabečná, Marie (advisor) ; Šimková, Halina (referee)
The analysis of cell-free fetal DNA (cffDNA) in maternal plasma became an important component of non-invasive prenatal diagnostics in recent years. Detection of Y chromosome sequences in free circulating DNA (cfDNA) indicates the presence of a male fetus; the absence of the Y-chromosomal signal confirms the female gender. The aim of this work is to confirm the utility of insertion-deletion polymorphisms (INDEL) for determination of the female sex of the fetus using the analysis of cffDNA by Digital Droplet PCR (ddPCR). In the thesis, X chromosomal INDEL polymorphisms with a suitable allelic frequencies were selected from databases to allow the determination of the presence of the paternal X chromosome in cffDNA and to lead to the confirmation of the female sex of the fetus by a positive amplification signal and to rapid determination of the fetal fraction size of the circulating DNA. Molecular genetic examination of these polymorphisms was established using ddPCR method. A population study was carried out to verify the utility of the proposed polymorphisms with regard to non-invasive prenatal diagnosis. We examined X chromosomal INDEL polymorphisms: rs2307932, rs16397, rs16637, rs3048996, rs16680 using the ddPCR methodology. In order to obtain population data, we performed tests from the buccal...
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Genetic determination and heredity of craniofacial traits based on specific DNA loci
Králíková, Kristýna ; Daňková, Pavlína (advisor) ; Šimková, Halina (referee)
Introduction: Genetic determination of human face is clearly visible in family members. The resemblance between monozygotic twins who are genetically identical is especially remarkable. So far the possibilities of reliable prediction of the complex morphology of facial traits on the basis of genome analysis and the ability to capture the variability of human facial morphology through genotype variability are highly limited. Complete genetic basis of the physiological variability of craniofacial traits remains more or less unknown. This master's thesis was created as a pilot study of the shared project of the Laboratory of 3D Imagining and Analytical Methods and the Laboratory of Molecular Anthropology on Department of Anthropology and Human Genetics. Material and Methods: The specimen collection is composed of DNA samples derived from 30 families (29 with 4 members, 1 with 5 members) who fulfilled required criteria. Nine single nucleotide polymorphisms were chosen based on the available information. Eight of them are linked to normal facial variability and one was chosen based on the assumed function of the gene where the polymorphism is located. There were two methods of genotyping: RFLP method with the use of restriction endonuclease and SNaPshot method. Morphological data were provided by the...
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