Familial defect of apo B-100 in subjects with clinically diagnosed primary hypercholesterolemia: identification of the first family with this disorder in Spain
Real, J.T.; Chaves, J.F.; Ascaso, J.F.; Armengod, M.E.; Carmena, R.
Medicina Clinica 113(1): 15-17
1999
ISSN/ISBN: 0025-7753 PMID: 10422071 Document Number: 507793
The aim of our study was to screen mutations responsible of FDB in subjects with primary hypercholesterolemia. 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). One out of 95 subjects carried the R3500Q mutation. We have searched in the family and have identified another affected subject. We have identified the first affected Spanish family from FDB. The prevalence of R3500Q mutations was of 1% in FH subjects in this series.