Carriers of apparently balanced chromosomal aberrations (BCA) are usually phenotypically normal. However, it has been estimated that up to 27% of these BCA may be associated with an abnormal phenotype, most often caused by cryptic imbalances at the breakpoints, gene disruption by the breakpoint or via the position effect. In contrast to conventional karyotyping, molecular cytogenetic techniques enable more detailed BCA characterization and better correlation between genotype and phenotype of the patient. The aim of this thesis was to evaluate the presence of copy number variants (CNVs) at breakpoints or elsewhere in the genome in patients with abnormal phenotype who carry de novo or inherited BCA. 54 BCA were investigated using array CGH (20 de novo cases, 27 inherited and 7 cases of unknown origin) including 32 reciprocal translocations, 6 robertsonian translocations, 12 inversions and 4 complex chromosomal rearrangements. If possible, the parents were also examined to ascertain the inheritance of the relevant CNVs. In order to specify microarray findings or exclude gene disruption, FISH was used in selected patients. Among the patients included, in 31,5% (17/54) at least one (in 8 patients more than one) significant CNV was detected. Four cases carried cryptic imbalances only at the breakpoints,...

Supernumerary marker chromosomes (sSMCs) are a relatively rare cytogenetic phenomenon. Their laboratory examination is often difficult, and the clinical interpretation is even more challenging. The main reason is that most sSMC carriers have no clinical manifestations. The chromosome origin and exact range of the aberration are very important, as well as the fact that sSMCs are often found in mosaics that can strongly influence both the phenotype and the interpretation of result. Prenatal sSMC finding is one of the most challenging situations in both clinical and laboratory genetics. This work deals with the investigation process of sSMC carriers using molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH). We investigated a total of 67 families collected both prospectively and retrospectively, and we found 70 unique sSMCs in a total of 74 individuals. Six cases were familial and in three cases two sSMCs were found in one individual. According to the initial karyotype finding, the cases were divided into two groups, sSMCs supernumerary to a normal karyotype (group A) and sSMCT s supernumerary to the Turner karyotype (group B). The chromosomal origin was successfully determined in 88,6 % sSMCs. In group A the most common findings were sSMCs derived from chromosome 15,...

Objective: Mutations in the parkin (PARK2) gene have been associated with autosomal recessive early-onset Parkinson's disease (EOPD) with various frequencies in different populations. The aim of the study is to describe phenotypic characteristics of Czech EOPD patients, to evaluate the influence of environmental risk factors, and to determine the frequency of parkin allelic variants in patients and healthy controls. Methods: A total of 70 EOPD patients (age at onset ≤ 40 years) and 75 controls were phenotyped and screened for the sequence variants and exon rearrangements in the parkin gene. Results: The main features in the phenotype of the patients' sample were: the absence of cognitive deficit, high occurrence of dystonia, depression, hyperhidrosis, an excellent response to dopaminergic therapy, early onset of dyskinesia and motor fluctuation. Patients with mutations in the parkin gene had significantly lower age at onset. The agricultural occupation and work with chemicals increased the risk of EOPD, however the coffee drinking appeared to be a protective factor. Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous...

The observational study on natural regeneration of Norway spruce (Picea abies) was provided during seasons 2010 and 2011 in the windthrow area of High Tatra National Park. The main aim of this master thesis was to describe the distribution pattern in Norway spruce regeneration as well as to estimate the spatial scale, which most preciselly describes the differences in its phenotypic variability. Following step was to determine the relative influence of abiotic and stand factors on the growth characteristics and abundance of spruce seedlings. The Main focus lied on stressing the role of biotic interactions, like intraspecific and interspecific competition, leading to certain discrepancies in the phenotype, as well as in abundance of spruce seedlings.The reponse in variability in spruce traits was recognized at each spatial level. The results showed clear causality between soil moisture and vegetation composition, which both directly modified not only the phenotype of spruce seedlings and plants, but have even influenced their counts on particular stands.

Fluoxetin är den aktiva substansen i många serotoninreglerande läkemedel som förs in i vattendrag. Substansen har visats påverka beteende av vattenlevande organismer som fiskar, mollusker och kräftdjur genom att öka deras djärvhet. I denna studie undersöktes fluoxetins akuta (på vildfångade individer) och kroniska (på labbuppfödda individer) effekter av koncentrationerna 0, 3 och 30 ng L-1 på Asellus aquaticus (sötvattengråsugga) antipredatorbeteende. Detta gjordes genom tre beteendetest: (1) tid att lämna refug, (2) spontan aktivitet samt (3) flyktbeteende under predationsrisk. Överlag hittades få eller inga effekter på A. aquaticus från fluoxetin. De effekter som dock påverkade individer signifikant visade att exponerade individer flydde en signifikant kortare (30 %) tidsperiod från en simulerad predatorattack. Utöver denna huvudeffekt av fluoxetin hittades även signifikanta skillnader i fluoxetins påverkan på de två grupperna, när individer blev utsatta för den högsta koncentrationen ökade vildfångade individer sin aktivitet (38 % fler stopp och 49 % mer rörelse) medan labbuppfödda individer sänkte sin aktivitet (43 % färre stopp och 37 % mindre rörelse). Individer som inte var exponerade visade signifikanta skillnader i alla beteendetest för de två grupperna. Det är troligt att beteendeskillnader är en följd av olika uppfödningsmiljöer, dock går det inte att utesluta att ändrade genfrekvenser uppkommit. Studien lyser sken på behovet av fler studier av långtidsexponering av läkemedelsrester, de är sällan akut giftiga men har däremot subletal påverkan i låga doser. / Fluoxetine is the active substance in many selective serotonin reuptake inhibitive pharmaceuticals that currently enters surface waters. The substance has been shown to affect behaviors of water living organism such as fish, molluscs and crustaceans by making them less cautious. This study investigated the acute (on wild caught individuals) and chronic (on lab reared individuals) effects of fluoxetine on the antipredator behavior of Asellus aquaticus for three concentrations; 0,3 and 30 ng L-1. Three tests were used to determine the effects: (1) time to leave a shelter, (2) spontaneous activity and (3) escape behavior under predation risk. Few statistically significant effects of fluoxetine on A. aquaticus were found. However, individuals exposed to fluoxetine had a significantly shorter (30 %) escape period. Besides this main effect of fluoxetine, significant interactions between the two groups and fluoxetine were also found. When exposed to the highest concentration wild caught individuals increased their spontaneous activity (38 % more stops and 49 % more movement), while lab reared individuals reduced their activity (43 % fewer stop and 37 % less movement). Furthermore, non-exposed individuals from the two groups behaved significantly different in all the tests. It is likely that the differences in behavior occurred due to environmental effects of laboratory rearing, although altered gene frequencies cannot be excluded. This study emphasizes the need for development of methods for more chronic testing of pharmaceuticals, especially considering that pharmaceuticals are seldom acutely toxic but often has sub lethal effects in low doses.

We chose to base our literature study on the meme phenomena. The meme is a portion of culture that is spread among us from mind to mind. Every time we learn something by copying others we use information that has been passed on from a previous person, that information can be seen as a meme. The theoretical frame for our methodology in our exam paper is founded on Forsberg och Wengström research on literature studies. Our aim is to describe to the reader in depth what a meme is and how they could be helpful in an academic and pedagogical setting.Our study will show how memes are seen predominantly as graphic designs and as artifacts for cultural representation parallel to their imagery. This means that the cultural reference is only clear to the beholder if they have corresponding prior knowledge to the reference.Our study will also show via concrete examples how this could be used in school settings and as pedagogical tools in the classroom.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe inherited disease manifested by cystic renal disease, congenital hepatic fibrosis and dilatatation of bile ducts. The spectrum of clinical manifestations is very wide and variable, depends on the age at which the disease was manifested. In severe forms of the disease, it is possible to detect the first symptoms prenatally around the 20th week of pregnancy due to increased echogenic kidneys and the presence of oligohydramnios. The causal gene of this disease is thePKHD1 gene with protein product fibrocystin that is most likely contributing on maintaining the intracellular concentration of Ca2+ cations. The exact phatophysiology mechanism of ARPKD remains unknown. Phenotypic manifestations of this disease may overlap with mutations associated with other genes. One of the genes mimicking the ARPKD phenotype is the HNF1B gene. Mutations associated with HNF1B gene are the most common monogenic cause of developmental kidney abnormalities. HNF1B is a tissue-specific transcription factor that regulates the expression of PKHD1. In experimental part I worked on genetic analysis of the HNF1B gene in 28 patients who have not been confirmed ARPKD diagnosis by detection of 2 PKHD1 mutations. For the purposes of mutational screening, I used...