BACKGROUND: The aim of our study was to screen mutations responsible of FDB in subjects with primary hypercholesterolemia. MATERIAL AND METHODS: We have screened R3500Q and other mutations (PCR-SSCP analysis) in 110 subjects with primary hypercholesterolemia from the Valencia 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 searched 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.
BACKGROUND: The aim of our study was to screen mutations responsible of FDB in subjects with primary hypercholesterolemia. MATERIAL AND METHODS: We have screened R3500Q and other mutations (PCR-SSCP analysis) in 110 subjects with primary hypercholesterolemia from the Valencia 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 searched 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.
Authors: Amira S Sabbagh; Rose T Daher; Zaher K Otrock; Rabab N Abdel Khalek; Ghazi S Zaatari; Rami A R Mahfouz Journal: Mol Biol Rep Date: 2006-12-08 Impact factor: 2.316