|
|
Current genomic and cytogenomic methods in analysis of chromosome rearrangements
Buryšová, Sára ; Sember, Alexandr (advisor) ; Mandáková, Terezie (referee)
Chromosome rearrangements represent one of the major mechanisms driving the eukaryotic genome evolution. They may significantly contribute to reproductive isolation and diversification, including the evolution of complex life-history traits linked e.g. with local adaptation. They are structural changes leading to alteration in the morphology and/or number of chromosomes, which can have a direct effect on the evolution of genes and their expression profiles, the frequency and distribution of recombination in the genome, and the functional dynamics of processes operating in the interphase nucleus. However, they may be also causal for etiology (or a consequence) of inherent diseases and tumorigenesis. The study of chromosome rearrangements and the mechanisms of their emergence is related to the identification and characterization of rearrangement breakpoints (i.e. where double-strand break occurred and chromosome segments subsequently rejoined). One possibility is to analyze chromosomes and interspecific changes in the arrangement of linkage groups/synteny blocks using cytogenetic and cytogenomic methods (e.g. cross-species mapping of whole-chromosome hybridization probes). More detailed insight is provided by comparative genomics, nowadays mainly represented by so-called third-generation methods (the...
|
|
| |
|
|
Current methods of genome analysis and their use in identification of genetic determinants of human diseases
Stránecký, Viktor ; Kmoch, Stanislav (advisor) ; Kleibl, Zdeněk (referee) ; Pačes, Jan (referee)
The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular basis of human traits and greatly helped to the identification of genes, to the elucidation of their function and to the characterization of metabolic pathways and cellular processes. Over the past decades, linkage analysis has been appropriate approach to search for the genes causing Mendelian diseases and contributed to the identification of many genes, but the genetic cause of many diseases remains unknown. New methods of studying the human genome, microarray technology and massively parallel sequencing (next generation sequencing), represent a way to efficiently identify the cause of genetically determined diseases, based on direct observation of mutations in the genome of affected individuals. These techniques replaced the traditional method of disease gene identification represented by linkage analysis and sequencing of candidate genes and have become the standard approach to elucidate the molecular basis of diseases. In this work, i describe the the results achieved by using these methods - identification of the genes underlying mucopolysacharidosis type IIIC, isolated defect of ATP synthase, Rotor syndrome, autosomal dominat ANCL and GAPO syndrome.
|
|
| |
|
|
Current methods of genome analysis and their use in identification of genetic determinants of human diseases
Stránecký, Viktor ; Kmoch, Stanislav (advisor) ; Kleibl, Zdeněk (referee) ; Pačes, Jan (referee)
The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular basis of human traits and greatly helped to the identification of genes, to the elucidation of their function and to the characterization of metabolic pathways and cellular processes. Over the past decades, linkage analysis has been appropriate approach to search for the genes causing Mendelian diseases and contributed to the identification of many genes, but the genetic cause of many diseases remains unknown. New methods of studying the human genome, microarray technology and massively parallel sequencing (next generation sequencing), represent a way to efficiently identify the cause of genetically determined diseases, based on direct observation of mutations in the genome of affected individuals. These techniques replaced the traditional method of disease gene identification represented by linkage analysis and sequencing of candidate genes and have become the standard approach to elucidate the molecular basis of diseases. In this work, i describe the the results achieved by using these methods - identification of the genes underlying mucopolysacharidosis type IIIC, isolated defect of ATP synthase, Rotor syndrome, autosomal dominat ANCL and GAPO syndrome.
|
|
|
Genetické aspekty domestikačního znaku pukavosti lusku u hrachu
Smutná, Lenka
At the beginning, the plant domestication was probably a non-conscious process. Later, it changed to a targeted process, when the cultural crops were developed from wild species due to human activities. Some crops occurred as a weed of the first cultural species in the past and were selected for individual crops during the domestication. The very beginning of the domestication can be found in neolithic era, when humans chan- ged their way of life from picking & hunting to agriculture & shepherdy. Change of climate after the last ice age was probably one of the reasons. Wild plants as a whole differ from cultural crops in set of domestication characters. Domesticated crops have for example bigger fruits (tomato plant - Solanum lycopersicum L.), contain lower amount of toxic substances (solanine, potato - S. tuberosum L.), natural spreading of seeds and dormancy were inhibited (pea - Pisum L.) etc. Spontaneous releasing of seeds was a big issue already in the past, and is a big issue also now. Afford to avoid this behavior was exerted from the beginning of agriculture. Plants developed various mechanisms of seed spreading into their surroundings for the purposes of species preservation. Legumes developed explosive seed spreading. Shrinking pod valves exert tension on both junctions and once the critical force was reached, the pod suddenly opens. During this action, the pod orientation changes (the tip obliquely upwards) and the seeds are catapulted up to several meters into surroundings. The objective of this work was to narrow mapping interval of the pod shattering ge- ne (Dpo1) in pea (Pisum L.) and focus on evaluation of phenotype of recombinant in- bred lines (RILs). Several RILs formed by crossbreeding of contract parent genotypes of P. elatius were used Steven ex M. Bieb. JI64 × clutural pea P. sativum L. JI92 and reci- procal crossbreeding JI92 × JI64; P. elatius Steven ex M. Bieb. VIR320 × cultural pea P. sativum L. WL1238. Next objective was a comparison anatomical analysis of pod structure in the area of ventral and dorsal junction and endocarp structure.
|
|
|
Mikrosatelity a jejich využití v genetických analýzách
Wijacki, Jan
Microsatellites are short repetitive DNA sequences localized in both procaryotic and eucaryotic genome. It belongs to the satellite DNA located in the coding and noncoding regions of genetic information. They consist of 1-6 base pairs and the number of repetitions of individual motifs can move up in the hundreds. Microsatellites are tested using the polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) or by capillary electrophoresis and fragment analysis. They are currently widely used as molecular genetic markers used, e.g. for paternity analysis, genetic mapping studies and genetic population and diversity studies.
|
guest ::
