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National Repository of Grey Literature 12 records found  previous11 - 12  jump to record: Search took 0.00 seconds. 
Reciprocal microdeletion and microduplication on human chromosomes
 Sluková, Lucie ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Nonallelic homologous recombination (NAHR) mediated by LCRs (low-copy repeats) produces chromosomal rearrangements in the human genome. Those rearrangements include microdeletion and microduplication. Those mutations cause a great number of syndromes and thus are studied along with its genesis. Studies are enabled by the development of methods, which are able to detect those cryptic aberrations, e.g. comparative genomic hybridisation (CGH). Nowadays scientists often come across the mirror phenotype of the already described microdeletion (microduplication) syndromes. The presence of the reciprocal microduplication (microdeletion), which afflicted a gene sensitive to gene dosage or other important region of the human genome, is discovered by a genomic analysis. The examples of those affected chromosomal regions (and associated diseases) are areas 1q21.1; 5q35.2-3 (Sotos syndrome); 7q11.23 (Williams-Beuren syndrome); 16p11.2 až 12.2 a 16p13.11; 17q11.2 (Neurofibromatosis type 1); 17p11.2-12 (CMT1A/HNPP) a 22q11.2 (DiGeorge syndrome and VCFS). Key words: microduplication; microdeletion; nonallelic homologous recombination (NAHR); comparative genomic hybridisation (CGH); mirror phenotype; reciprocal rearrangements.
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The SHOX gene and clinical consequences of its defects
 Klugerová, Michaela ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
The SHOX gene ("Short Stature Homeobox-containing Gene") was identified during research of genotype-phenotype corelations in patiens with Turner Syndrome. Absence one alele of this gene was the cause of short stature in these girls. Shortly after, mutations in SHOX gene were identified in patients with Léri-Weill and Langer syndrom, thus in patients with growth failure and skeletal deformities. It is estimated that mutations in SHOX gene or mutations in SHOX regulatory regions affect one in thousand of new born children. Mutations in this gene are one of the most common genetic causation leading to growth failure phenotype. However, the exact role of SHOX gene in bone growth and development is still unknown, therefore it is importnant to study problems with SHOX gene and try to discover mechanism of SHOX protein activity on molecular levels.
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