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Characterisation of rare genetic diseases using genomic techniques.
Kmochová, Tereza ; Hodaňová, Kateřina (advisor) ; Schierová, Michaela (referee)
In this thesis the importance of studying genetically determined rare diseases is described and current methods and options to determine their genetic causes are evaluated. The introduction describes the definition of rare diseases and the reasons why we study them. Currently it is known about 8,000 diseases which are caused by functionally serious mutations in one or more genes. The clinical symptoms of genetically caused rare diseases and the results of common functional and biochemical tests do not allow the exact diagnosis in most cases. The absence of the diagnosis and the causes of diseases reduces the quality of life of patients and their families. The determination of genetic causes allows accurate classification of studied cases and it is a base for qualified genetic counseling and prevention of rare diseases in the families. The next chapters describe the methods of DNA analysis (DNA sequencing using different methods), the possibilities of finding the genetic cause of a disease and show the basic approaches to the study of functional impact of the mutations. The practical use of these methods is shown in the case of two siblings with delayed psychomotoric development, special hair quality (pili torti), hearing impairment and hyperuricemic nephropathy in which the genetic analysis...
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Evolution of birches from Betula pendula and B. pubescens group: morphological and molecular reappraisal
Kaněra, Lukáš ; Fér, Tomáš (advisor) ; Urfus, Tomáš (referee)
The genus birch (Betula) consists of woods that grow nearly on the whole northern hemisphere. They have been intensively studied since the 2. half of the 19. century which led to the description of tens of species. During time the genus has been divided into several sections, which changed in the opinions of different authors. The study of their evolution and diversity is difficult due to frequent interspecific hybridisation and polyploidisation. Understanding this issue is also complicated due to a large number of morphologically similar defined species. Different methods have been used to study birch evolution, from morphometrics to the present time study of the genome. The objective of this text is to summarize the knowledge and to enable the reader easy access to it. Key words: Betula, birch evolution, hybridization, morphometrics, flow cytometry, DNA analysis, birch taxonomy
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The use of DNA analysis in kinship studies and investigation of distant biological relationship of people
Červená, Tereza ; Šimková, Halina (advisor) ; Korabečná, Marie (referee)
AJ The thesis deals with the possibilities and problems of DNA analysis in its use in kinship studies and investigation of distant biological relationship of people. It presents a summary of useful DNA markers with a focus on linking autosomal markers and lineage markers - mtDNA and Y-STR; characterizes the typical heredity of individual types of markers and explains the basic principles of interpretation of their analysis. The research also deals with computer software exploited in statistical calculations; case studies, specific examples of the use of DNA analysis in kinship studies and investigation of distant biological relationship of people are also included at the final section. Key words DNA analysis, genealogy, kinship study, STR, SNP, DNA marker
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Electrochemical biosensor for the study of DNA methylation
Petrula, Jakub ; Hrdý, Radim (referee) ; Hynek, David (advisor)
This bachelor’s thesis deals with design and optimalisation of custom biosensor for detection of methylated DNA. Teoretical part explains the mechanism and importance of DNA methylation. Next section describes analytical methods used in connection with DNA methylation and some basic direct and indirect methods of detection. Final part is dedicated to experiment itself, which is divided into several sections. Section one deals witch modification of working electrode and optimalisation of detection method. Second section introduces two different ways of DNA methylation detection. First is based on direct detection and second one on detection through the biosensor. Final part shows determination of methylcytosine from sample based on analysing characteristic attributes of signal and numeric algorithm based on curve fitting.
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Taxonomic revision of the genera Anisus in the Czech Republic (Mollusca: Planorbidae)
Zavoral, Tomáš ; Juřičková, Lucie (advisor) ; Beran, Luboš (referee)
The aim of this work is to critically review the anatomical and morphological characters being currently used in the determination of Central European species of the genus Anisus and to confront them with molecular characters. For the molecular analysis mitochondrial genes for 16S rRNA and cytochrome c oxidase - subunit I (COI) were used. DNA analysis showed that known species occuring in the Czech Republic form well distinguishable genetic lines. Subsequent revisions of the anatomical characters of these lines have proven that these characters are due to their variability not suitable for determination, especially for the differentiating of the species A. spirorbis and A. leucostoma. The conchological characters have proven more suitable, especially the ratio of the size of the last and penultimate whorl. With the help of this character, we can safely determine a population within which there are transitional forms in other morphological and anatomical characters.
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Haplotyping of oak populations by chloroplast sequencing reveals origin and homogeneity of populations
Vlasák, Josef ; Cvrčková, H. ; Máchová, P.
The aim of this publication is to present new method of DNA isolation from young\noak leaves that enables efficient amplification of trnD-trnT region of chloroplast\nDNA and direct sequencing of crude PCR reaction mixture. Sequence data of trnDtrnT region have been used to examine Quercus robur and Q. petraea populations variability. High discrimination power of this method is demonstrated, comparable with previously used restriction analysis of four similar chloroplast DNA regions. Variable positions in trnT-trnD chloroplast DNA fragment are mapped and their use for oak haplotyping indicated. As an example, 20 Czech Republic oak populations were analyzed and their history, geografical origin and homo/heterogeneity were revealed.
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Influence of season of nesting on the sex ratio of chicks of parrots genus \kur{Neophema}
PAPAČ, Martin
This bachelor thesis represents complete summary of most of avian sex ratio studies. A very important moment was discovering of PCR analysis in 90's. This method enables to determine sex at molecular level. Older works which lacked PCR could not determine sex reliably and therefore their results can be misleading. PCR can determine sex ratio at primary, secondary and tertiary level. Sex ratio manipulation in birds is probable evolutionary mechanism and there are several hypothesis regarding to that. Many experimental studies have shown possible ultimate and proximate causes which are responsible for sex ratio manipulation. However, low data sample was one of the causes why they have been considered to be doubtful. I have summarized several most important points of this field within my literal review. The main goal of this study is to confirm or disprove some of the hypothesis in my breeding of Scarlet-chested Parrots (Neophema splendida). The research took three years and despite considerable domestication the sex ratio manipulation was proved in this species. Results show that the main factor affecting sex ratio was photoperiod during the breeding season and order of nesting.
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DNA analysis of nonpathogenic clostridia isolated from cheeses
Chroboková, Maria ; Trachtová, Štěpánka (referee) ; Španová, Alena (advisor)
Polymerase chain reaction (PCR) is a molecular method which allows in vitro replication of nucleic acids. It allows the identification and quantification of microorganisms or to prove specific gene sequentions in different matrices of biological origin. Some nonpathogenic species of genus Clostridium cause damages of cheeses, so their identification and quantification is very important in cheesemaking. In this thesis, specific primers for genus Clostridium were tested. Bacterial DNA from culture collection strains and from strains isolated from damaged cheeses were used. Genus-specific region for Clostridium was amplified using specific primers. The PCR products (619 bp) were detected using electrophoresis in 1,8% agarose gel. Genus-specific character of primers was confirmed. DNA of Lactobacillus was used for negative control.
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