Výsledky molekulárně genetického vyšetření pacientů Dětské lipidové poradny Fakultní nemocnice Olomouc v rámci projektu MedPed

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Title in English	Results of Molecular Genetic Examinations in Patients of the Child Lipid Advisory
Authors	HYJÁNEK J. PASTUCHA D. TICHÝ Lukáš FAJKUSOVÁ Lenka FREIBERGER Tomáš
Year of publication	2010
Type	Article in Periodical
Magazine / Source	Česko - Slovenská Pediatrie
MU Faculty or unit	Faculty of Medicine
Citation
Field	Paediatry
Keywords	dyslipidemias; atherosclerosis; familial hypercholesterolemia; DNA analysis; medped
Description	During the past 12 years 410 patients were seen in the Paediatric lipid clinic and 96 patients are being followed up. Causal mutation of the gene for LDL receptor or the gene for Apo B-100 was detected in 62% of 74 tested patients in the cohort of familial hypercholesterolemia (FH)/familial defect of apolipoprotein B-100 (FDB). The LDL receptor mutations are usually family specific. There were 2,5 patients with FH per family and 2,6 patients with FDB per family. This is higher than the country average.
Related projects:	Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches