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Molecular genetic analysis of selected cryptic rearrangements of human chromosomes
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Zemanová, Zuzana (referee) ; Kuglík, Petr (referee)
The presented dissertation summarizes the results of research focused on the study of cryptic rearrangements of human chromosomes. Specifically, it focuses on three core areas of research. The first area is the research of cryptic rearrangements identified as causal causes of mental retardation in patients with previously unknown aetiology. The most common are the so-called microdeletion syndromes. The large variability of the phenotype and often overlapping symptoms of microdeletion syndromes require a whole-genome approach. Within the research, 64 probands were investigated and in 10 (16%) cryptic rearrangements were found and further analyzed. The second area is the research of cryptic rearrangements associated with the pseudoautosomal region 1 (specifically with the SHOX gene region), which may be both natural components of population variability and the cause of the disease. Within the research, 98 patients with Léri-Weill dyschondrosteosis or idiopathic short stature were examined, with a causal mutation found in 68.8%, and 7.8% probands respectively. At the same time, the minor deletion (so-called L05101 deletion) was evaluated as a population polymorphism without an apparent phenotypic impact. Duplications with high pathogenic potential were identified by mean of comparative analysis of...
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