Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Schwarzbraun, T.
Systematic analysis of patients with subtle genomic aberrations - How genotype/phenotype correlation can help to identify candidate genes and to elucidate gene function.
[ Dissertation ] Graz Medical University; 2007.
- Autor*innen der Med Uni Graz:
- Schwarzbraun Thomas
- Betreuer*innen:
- Petek Erwin
- Wagner Klaus
- Altmetrics:
- Abstract:
- Subtle genomic aberrations like, translocations, inversions and copy number variations, are relatively frequent events in the human genome. Many of the aberrations have no apparent clinical relevance for the carriers but can be major cause of inherited diseases. On the other hand, a large number of the de nove events are associated with a broad range of clinical anomalies of varying severity in the affected individuals. In the past decades many of the underlying genetic defects in these events could be identified with the help of the rapidly evolving cytogenetic and molecular genetic tools. The recent completion of the human genome project enabled an even more detailed genotype/phenotype correlation. This work summarizes the systematic clinical and molecular characterization of a number of de novo events linked to various clinical manifestations as well as the subsequent genotype/phenotype correlation and initial inferences of gene function. The detailed identification of the individual breakpoints was accomplished with a combination of cytogenetic and molecular cytogenetic techniques (FISH and array-CGH) and further refined by qPCR and marker analysis. With the obtained mapping of the aberrations down to single gene level, relevant genes for the patients treatment as well as candidate genes for the respective manifestations were identified