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Vývojová specifika jedinců s Angelmanovým syndromem a syndromem Prader - Willi jako východiska pro práci speciálního pedagoga / Developmental specifics of individuals with Angelman syndrome and Prader - Willi syndrome as the basis for special educator's workDoubková, Světla January 2014 (has links)
Developmental specifics of individuals with Angelman and Prader - Willi syndrome as the basis for special educator's work The thesis deals in a complex way with the issue of two rare syndromes - Angelman and Prader- Willi syndrome. It describes the manifestations and genetic background, outlines the options for special education and rehabilitation interventions as well as selected medical and regime measures. The thesis informs about the category of rare diseases and also mentions the strategies for approach to these diseases used in the Czech Republic. It also comprises a list of organizations in the Czech Republic that deal with the Angelman and Prader - Willi syndrome and which associate parents and others interested in this topic. The end, the thesis comprises casuistry of two individuals, characteristic syndrome bearers, and conclusions of a questionnaire survey among parents. Surveys through questionnaires illustrate the specific characteristics of inidividuals that have been used to define areas of support. The goal of the thesis was to describe the possibilities for pedagogic and other interdisciplinary interventions, map the situation in the Czech Republic, and to provide more information about this issue to anyone interested.
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Mitogenomická fylogeografie a adaptivní evoluce norníka rudého Clethrionomys glareolus / Mitogenomic phylogeography and adaptive evolution of the bank vole Clethrionomys glareolusFilipi, Karolína January 2015 (has links)
This thesis is a part of the project aimed at sequencing the genome and transcriptome of the bank vole (Clethrionomys glareolus). The role of natural selection in the evolution of mitochondrial DNA (mtDNA) has been subject to much discussion; while some studies did not provide evidence that selection affected the phylogeography of the studied species, other considered adaptive evolution important. The bank vole is the key model we use to study the adaptation to climate change. As with other species, the phylogeography of the bank vole has been based on the variation of a small part of mtDNA. The goal of the thesis was to sequence the entire mitochondrial genome for representatives of all main mtDNA lineages of the bank vole using the Sanger and Illumina technologies, and to assess the role of selection and adaptation in the evolution and phylogeography of this species. The adaptive evolution in mtDNA probably was not the main driving force during the postlacial colonization of Europe. However, signatures of adaptive evolution have been found - an amino acid change with possible functional consequences in one gene and an excess of radical changes in physical- chemical properties of amino acids in populations at the latitudinal (northern and southern) extremes of the bank vole distribution. Key...
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Využití biologických metod v kriminalistice / Use of Biological Methods in CriminologyMüllerová, Nikola January 2014 (has links)
Criminology is a science dealing with the protection of citizens and state from infringement. Criminology uses mostly biological or genetic methods for crime detection. Forensic traces which are collected by forensic experts on the scene are the key items of those methods. Forensic genetics is among the most important forensic subdisciplines. Forensic genetics uses DNA analysis for identification. The main aims of this study are description and importance of biological, anthropological and genetic methods in criminology, different ways of forensic identification, division and collection of forensic traces, characterization and course of forensic DNA analysis and DNA profiling. Key words Criminology, forensic methods, forensic identification, forensic trace, forensic biology, anthropology and genetics, information systems, forensic DNA analysis, DNA profile.
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Pohled křesťanské etiky na problematiku somatických a germinálních zásahů do lidského genomu za účelem vylepšit parametry druhu Homo Sapiens Sapiens / General view of somatic and germinal interferences with human genome for the purpose of Homo Sapiens Sapiens improvement by means of the Christian ethicsHLINÁK, Jiří January 2010 (has links)
Substantiality of the thesis is the question of moral and ethic in the sphere of developing genetic and inheritance research. Thesis is especially focused on ethics consequences which result from the application of this research. Thesis is divided in two parts. First part contains general information about genetics science and it is more likely descriptive. This part outlines fundamental principles of genetic, its evolution and genetics breakthroughs and their today exploitation. Thereinafter are mentioned genetics techniques divided in singles areas of interest with main focus on human genetic manipulation {--} main topic of the thesis. Close of this part is dedicated to the theoretical aspects of the ambition in the field of human changing and the description of achieved goals. There are mentioned controlling and regulating mechanisms as conclusions of the first part of the thesis. Opinion on regulation of clerical representatives, civil law, laic public and scientists themselves are referred-to. Second part of the thesis is focused directly on the ethics risks of the practical use of genetic technologies and their impact on human being. The principles of catholic ethic are foreshadowed. The expectations of human genetic improvement are confronted gradually by those principles. [90] Statement, that the human improvement by the genetic manipulation is non tenable by means of the Christian ethics is a conclusion of this thesis.
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Aplikace matematických znalostí při výuce biologieSTUDENÁ, Lucie January 2018 (has links)
The Theses deals with applications of mathematical knowledge in teaching biology and it is divided into four chapters. Each chapter is dedicated to another application: 1. Application of conditional probability in medical diagnostics, 2. Application of exponential function in population ecology, 3. Application of logic functions in mathematical modelation of neuron and 4. Aplication of binomial theorem and binomial distribution in genetics. Each application contains solved problems, a worksheet for students and a solution for each worksheet. Two application (1. and 2.) have been tested in teaching and as an assessment of my lessons students filled questionnaires. Results of these questionnaires are processed in the end of these chapters. This Thesis can be used in teaching or self-studying.
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Praktická aplikace imunohistochemických a molekulárně - genetických metod v diferenciální diagnostice lézí urogenitálního a gynekologického traktu / Implementation of Immunohistochemical and Molecular-Genetic Methods in Differential Diagnosis of Urogenital and Gynecologic Tract LesionsOndič, Ondrej January 2018 (has links)
This thesis focuses on gynecopathology. It consists of a collection of seven papers published in pathology journals with impact factor. Introduction section contains selection of examples showing scientific application of molecular genetic methods. Further on the aims of individual research projects are described. The first project comprises histomophologic study of skin endometriosis addressing "mullerian" differentiation. A case report of a rare tumor namely borderline papillary serous tumor of the fimbriated end of the fallopian tube follows with molecular genetic analysis of KRAS, BRAF and p53 gene mutation status. Prospective longitudinal study on high grade squamous dysplasia (HSIL) of the cervix in HPV vaccinated women, so called DAV (dysplasia after vaccination), aims to elucidate pathogenesis of this phenomenon. Two other studies focus on incidence of fumarate hydratase deficient leiomyomas of the uterus and hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC). The aim of those studies is to improve our diagnostic capability and increase detection rate of the patients with HLRCC syndrome. Finally a new subtype of HSIL namely bizarre cell dysplasia is described in two separate studies. Conclusion remarks contemplate the role of molecular genetics in surgical pathology.
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Role genetické variance ve speciaci / Role of genetic variance in speciationPayne, Pavel January 2011 (has links)
Sympatric speciation has received much attention both empirically and theoretically. However, the contribution of sympatric speciation to biodiversity remains unclear. One piece missing from the speciation puzzle is the plausibility of sympatric ecological divergence of species through adaptation in polygenic traits. I consider an environment consisting of two niches, where one value of the trait is advantageous in only one niche, and vice versa. The selection regime is described by a trade-off in viabilities between the niches. These polygenic traits can, and often do, involve epistatic interactions among and between loci, so that the contribution of the alleles to viability deviates from additivity. Epistasis then also affects the curvature of the trade-offs: predominant less-than-additive epistasis turns the curve towards concavity and predominant more-than-additive towards convexity. The curvature of the trade-off plays a crucial role in the evolution of populations. With a convex trade- off, extreme values of the trait are favored and the population tends to diverge, but relatively stringent symmetry in strength of selection within the niches and the niche proportions is necessary to maintain polymorphism. In this study I use two and three- locus haploid versions of Levene's model to...
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Praktická aplikace imunohistochemických a molekulárně - genetických metod v diferenciální diagnostice lézí urogenitálního a gynekologického traktu / Implementation of Immunohistochemical and Molecular-Genetic Methods in Differential Diagnosis of Urogenital and Gynecologic Tract LesionsOndič, Ondrej January 2018 (has links)
This thesis focuses on gynecopathology. It consists of a collection of seven papers published in pathology journals with impact factor. Introduction section contains selection of examples showing scientific application of molecular genetic methods. Further on the aims of individual research projects are described. The first project comprises histomophologic study of skin endometriosis addressing "mullerian" differentiation. A case report of a rare tumor namely borderline papillary serous tumor of the fimbriated end of the fallopian tube follows with molecular genetic analysis of KRAS, BRAF and p53 gene mutation status. Prospective longitudinal study on high grade squamous dysplasia (HSIL) of the cervix in HPV vaccinated women, so called DAV (dysplasia after vaccination), aims to elucidate pathogenesis of this phenomenon. Two other studies focus on incidence of fumarate hydratase deficient leiomyomas of the uterus and hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC). The aim of those studies is to improve our diagnostic capability and increase detection rate of the patients with HLRCC syndrome. Finally a new subtype of HSIL namely bizarre cell dysplasia is described in two separate studies. Conclusion remarks contemplate the role of molecular genetics in surgical pathology.
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Investigating the importance of co-expressed rotavirus proteins in the development of a selection-free rotavirus reverse genetics system / Johannes Frederik WentzelWentzel, Johannes Frederik January 2014 (has links)
Reverse genetics is an innovative molecular biology tool that enables the manipulation of
viral genomes at the cDNA level in order to generate particular mutants or artificial viruses.
The reverse genetics system for the influenza virus is arguably one of the best illustrations of
the potential power of this technology. This reverse genetics system is the basis for the
ability to regularly adapt influenza vaccines strains. Today, reverse genetic systems have
been developed for many animal RNA viruses. Selection-free reverse genetics systems have
been developed for the members of the Reoviridae family including, African horsesickness
virus, bluetongue virus and orthoreovirus. This ground-breaking technology has led to the
generation of valuable evidence regarding the replication and pathogenesis of these viruses.
Unfortunately, extrapolating either the plasmid-based or transcript-based reverse genetics
systems to rotavirus has not yet been successful. The development of a selection-free
rotavirus reverse genetics system will enable the systematic investigation of poorly
understood aspects of the rotavirus replication cycle and aid the development of more
effective vaccines, amongst other research avenues.
This study investigated the importance of co-expressed rotavirus proteins in the
development of a selection-free rotavirus reverse genetics system. The consensus
sequences of the rotavirus strains Wa (RVA/Human-tc/USA/WaCS/1974/G1P[8]) and SA11
(RVA/Simian-tc/ZAF/SA11/1958/G3P[2]) where used to design rotavirus expression
plasmids. The consensus nucleotide sequence of a human rotavirus Wa strain was
determined by sequence-independent cDNA synthesis and amplification combined with
next-generation 454® pyrosequencing. A total of 4 novel nucleotide changes, which also
resulted in amino acid changes, were detected in genome segment 7 (NSP3), genome
segment 9 (VP7) and genome segment 10 (NSP4). In silico analysis indicated that none of
the detected nucleotide changes, and consequent amino acid variations, had any significant
effect on viral structure. Evolutionary analysis indicated that the sequenced rotavirus WaCS
was closely related to the ParWa and VirWa variants, which were derived from the original
1974 Wa isolate. Despite serial passaging in animals, as well as cell cultures, the Wa genome
seems to be stable. Considering that the current reference sequence for the Wa strain is a
composite sequence of various Wa variants, the rotavirus WaCS may be a more appropriate
reference sequence.
The rotavirus Wa and SA11 strains were selected for plasmid-based expression of rotavirus
proteins, under control of a T7 promoter sequence, due to the fact that they propagate well
in MA104 cells and the availability of their consensus sequences. The T7 RNA polymerase
was provided by a recombinant fowlpox virus. After extensive transfection optimisation on a
variety of mammalian cell lines, MA104 cells proved to be the best suited for the expression
rotavirus proteins from plasmids. The expression of rotavirus Wa and SA11 VP1, VP6, NSP2
and NSP5 could be confirmed with immunostaining in MA104 and HEK 293H cells. Another
approach involved the codon-optimised expression of the rotavirus replication complex
scaffold in MA104 cells under the control of a CMV promoter sequence. This system was
independent from the recombinant fowlpox virus. All three plasmid expression sets were
designed to be used in combination with the transcript-based reverse genetics system in
order to improve the odds of developing a successful rotavirus reverse genetics system. Rotavirus transcripts were generated using transcriptively active rotavirus SA11 double
layered particles (DLPs). MA104 and HEK293H cells proved to be the best suited for the
expression of rotavirus transcripts although expression of rotavirus VP6 could be
demonstrated in all cell cultures examined (MA104, HEK 293H, BSR and COS-7) using
immunostaining. In addition, the expression of transcript derived rotavirus VP1, NSP2 and
NSP5 could be confirmed with immunofluorescence in MA104 and HEK 293H cells. This is
the first report of rotavirus transcripts being translated in cultured cells. A peculiar cell
death pattern was observed within 24 hours in response to transfection of rotavirus
transcripts. This observed cell death, however does not seem to be related to normal viral
cytopathic effect as no viable rotavirus could be recovered. In an effort to combine the
transcript- and plasmid systems, a dual transfection strategy was followed where plasmids
encoding rotavirus proteins were transfected first followed, 12 hours later, by the
transfection of rotavirus SA11 transcripts. The codon- optimised plasmid system was
designed as it was postulated that expression of the DLP-complex (VP1, VP2, VP3 and VP6),
the rotavirus replication complex would form and assist with replication and/or packaging.
Transfecting codon- optimized plasmids first noticeably delayed the mass cell death
observed when transfecting rotavirus transcripts on their own. None of the examined coexpression
systems were able to produce a viable rotavirus.
Finally, the innate immune responses elicited by rotavirus transcripts and plasmid-derived
rotavirus Wa and SA11 proteins were investigated. Quantitative RT-PCR (qRT-PCR)
experiments indicated that rotavirus transcripts induced high levels of the expression of the
cytokines IFN- α1, IFN-1β, IFN-λ1 and CXCL10. The expression of certain viral proteins from
plasmids (VP3, VP7 and NSP5/6) was more likely to stimulate specific interferon responses,
while other viral proteins (VP1, VP2, VP4 and NSP1) seem to be able to actively suppress the
expression of certain cytokines. In the light of these suppression results, specific rotavirus
proteins were expressed from transfected plasmids to investigate their potential in
supressing the interferon responses provoked by rotavirus transcripts. qRT-PCR results
indicated that cells transfected with the plasmids encoding NSP1, NSP2 or a combination of
NSP2 and NSP5 significantly reduced the expression of specific cytokines induced by
rotavirus transcripts. These findings point to other possible viral innate suppression
mechanisms in addition to the degradation of interferon regulatory factors by NSP1. The
suppression of the strong innate immune response elicited by rotavirus transcripts might
well prove to be vital in the quest to better understand the replication cycle of this virus and
eventually lead to the development of a selection-free reverse genetics system for rotavirus. / PhD (Biochemistry), North-West University, Potchefstroom Campus, 2014
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Investigating the importance of co-expressed rotavirus proteins in the development of a selection-free rotavirus reverse genetics system / Johannes Frederik WentzelWentzel, Johannes Frederik January 2014 (has links)
Reverse genetics is an innovative molecular biology tool that enables the manipulation of
viral genomes at the cDNA level in order to generate particular mutants or artificial viruses.
The reverse genetics system for the influenza virus is arguably one of the best illustrations of
the potential power of this technology. This reverse genetics system is the basis for the
ability to regularly adapt influenza vaccines strains. Today, reverse genetic systems have
been developed for many animal RNA viruses. Selection-free reverse genetics systems have
been developed for the members of the Reoviridae family including, African horsesickness
virus, bluetongue virus and orthoreovirus. This ground-breaking technology has led to the
generation of valuable evidence regarding the replication and pathogenesis of these viruses.
Unfortunately, extrapolating either the plasmid-based or transcript-based reverse genetics
systems to rotavirus has not yet been successful. The development of a selection-free
rotavirus reverse genetics system will enable the systematic investigation of poorly
understood aspects of the rotavirus replication cycle and aid the development of more
effective vaccines, amongst other research avenues.
This study investigated the importance of co-expressed rotavirus proteins in the
development of a selection-free rotavirus reverse genetics system. The consensus
sequences of the rotavirus strains Wa (RVA/Human-tc/USA/WaCS/1974/G1P[8]) and SA11
(RVA/Simian-tc/ZAF/SA11/1958/G3P[2]) where used to design rotavirus expression
plasmids. The consensus nucleotide sequence of a human rotavirus Wa strain was
determined by sequence-independent cDNA synthesis and amplification combined with
next-generation 454® pyrosequencing. A total of 4 novel nucleotide changes, which also
resulted in amino acid changes, were detected in genome segment 7 (NSP3), genome
segment 9 (VP7) and genome segment 10 (NSP4). In silico analysis indicated that none of
the detected nucleotide changes, and consequent amino acid variations, had any significant
effect on viral structure. Evolutionary analysis indicated that the sequenced rotavirus WaCS
was closely related to the ParWa and VirWa variants, which were derived from the original
1974 Wa isolate. Despite serial passaging in animals, as well as cell cultures, the Wa genome
seems to be stable. Considering that the current reference sequence for the Wa strain is a
composite sequence of various Wa variants, the rotavirus WaCS may be a more appropriate
reference sequence.
The rotavirus Wa and SA11 strains were selected for plasmid-based expression of rotavirus
proteins, under control of a T7 promoter sequence, due to the fact that they propagate well
in MA104 cells and the availability of their consensus sequences. The T7 RNA polymerase
was provided by a recombinant fowlpox virus. After extensive transfection optimisation on a
variety of mammalian cell lines, MA104 cells proved to be the best suited for the expression
rotavirus proteins from plasmids. The expression of rotavirus Wa and SA11 VP1, VP6, NSP2
and NSP5 could be confirmed with immunostaining in MA104 and HEK 293H cells. Another
approach involved the codon-optimised expression of the rotavirus replication complex
scaffold in MA104 cells under the control of a CMV promoter sequence. This system was
independent from the recombinant fowlpox virus. All three plasmid expression sets were
designed to be used in combination with the transcript-based reverse genetics system in
order to improve the odds of developing a successful rotavirus reverse genetics system. Rotavirus transcripts were generated using transcriptively active rotavirus SA11 double
layered particles (DLPs). MA104 and HEK293H cells proved to be the best suited for the
expression of rotavirus transcripts although expression of rotavirus VP6 could be
demonstrated in all cell cultures examined (MA104, HEK 293H, BSR and COS-7) using
immunostaining. In addition, the expression of transcript derived rotavirus VP1, NSP2 and
NSP5 could be confirmed with immunofluorescence in MA104 and HEK 293H cells. This is
the first report of rotavirus transcripts being translated in cultured cells. A peculiar cell
death pattern was observed within 24 hours in response to transfection of rotavirus
transcripts. This observed cell death, however does not seem to be related to normal viral
cytopathic effect as no viable rotavirus could be recovered. In an effort to combine the
transcript- and plasmid systems, a dual transfection strategy was followed where plasmids
encoding rotavirus proteins were transfected first followed, 12 hours later, by the
transfection of rotavirus SA11 transcripts. The codon- optimised plasmid system was
designed as it was postulated that expression of the DLP-complex (VP1, VP2, VP3 and VP6),
the rotavirus replication complex would form and assist with replication and/or packaging.
Transfecting codon- optimized plasmids first noticeably delayed the mass cell death
observed when transfecting rotavirus transcripts on their own. None of the examined coexpression
systems were able to produce a viable rotavirus.
Finally, the innate immune responses elicited by rotavirus transcripts and plasmid-derived
rotavirus Wa and SA11 proteins were investigated. Quantitative RT-PCR (qRT-PCR)
experiments indicated that rotavirus transcripts induced high levels of the expression of the
cytokines IFN- α1, IFN-1β, IFN-λ1 and CXCL10. The expression of certain viral proteins from
plasmids (VP3, VP7 and NSP5/6) was more likely to stimulate specific interferon responses,
while other viral proteins (VP1, VP2, VP4 and NSP1) seem to be able to actively suppress the
expression of certain cytokines. In the light of these suppression results, specific rotavirus
proteins were expressed from transfected plasmids to investigate their potential in
supressing the interferon responses provoked by rotavirus transcripts. qRT-PCR results
indicated that cells transfected with the plasmids encoding NSP1, NSP2 or a combination of
NSP2 and NSP5 significantly reduced the expression of specific cytokines induced by
rotavirus transcripts. These findings point to other possible viral innate suppression
mechanisms in addition to the degradation of interferon regulatory factors by NSP1. The
suppression of the strong innate immune response elicited by rotavirus transcripts might
well prove to be vital in the quest to better understand the replication cycle of this virus and
eventually lead to the development of a selection-free reverse genetics system for rotavirus. / PhD (Biochemistry), North-West University, Potchefstroom Campus, 2014
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