SCREENING MUTACÍ V GENU PRO APOLIPOPROTEIN BV SOUBORU PACIENTŮ S HYPERLIPOPROTEINÉMIÍ

Mutation Screening in the Apo B gene in Czech Patients withHyperlipoproteinemia

Background.
Familial defective apolipoprotein (apo) B-100 (FDB) is a common inherited metabolic disorder.Reduced binding of the apo B-100, the major protein of LDL particles, to LDL receptor results in markedhypercholesterolemia. FDB is caused particularly by an arginine to glutamine substitution at the codon for aminoacid 3500 of the apo B-100. The aim of this study was to determine mutations potentially responsible forhypercholesterolemia in the apo B gene and to estimate their frequency in the group of Czech hyperlipidemic patients.Methods and Results. The groups of 169 unrelated patients with primary isolated hypercholesterolemia (totalcholesterol > 6,5 mmol/l, triglycerides < 2,3 mmol/l) and 58 unrelated patients with combined hyperlipoproteinemia(total cholesterol > 6,5 mmol/l, triglycerides > 2,3 mmol/l) were screened for mutations in codon 3500 region of theapolipoprotein B gene by denaturing gradient gel electrophoresis. Mutation R3500Q was detected in 20 patientswith isolated hypercholesterolemia (11,8 %) and in 2 patients with combined hyperlipoproteinemia (3,4 %). No othermutations were found.Conclusion. The frequency of FDB in our group of patients with primary isolated hypercholesterolemia is highwhen compared with data published in other countries. We suggest that all patients with primary isolated hypercho-lesterolemia (total cholesterol > 6,5 mmol/l) in the Czech Republic should be analysed for the presence of mutationR3500Q in the apo B gene.

Key words:
familial defective apolipoprotein B-100 (FDB), hypercholesterolemia, hyperlipoproteinemia, athe-rosclerosis, mutation, denaturing gradient gel electrophoresis (DGGE).