Screening of familial defective apo B-100 in subjects with primary hipercholesterolemia: identification of the first affected family in Spain

BACKGROUND: The aim of our study was to screen mutations responsable of FDB in subjects with primary hipercholesterolemia. MATERIAL ANO METHODS: We have screened R3500Q and other mutations (PCR-SSCP analysis) in 110 subjects with primary hipercholesterolemia from the Valen cia area (Spain), 95 of them with familial hypercholesterolemia (FH) and 15 with poligenic hypercholesterolemia(PHC). RESULTS: One out of 95 subjects carried the R3500Q mutation. We have search ed in the family and have identified another affected subject. CONCLUSIONS: We have identified the first affected Spanish family from FDB. The prevalence of R3500Q mutations was of 1% in FH subjects in this series .