Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100.
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چکیده
منابع مشابه
Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100.
Plasma concentrations of cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein (apo) B, and lipoprotein(a) (Lp[a]) in 46 persons heterozygous for the apo B-3500 mutation causing familial defective apo B-100 (FDB) were compared with those in 57 non-FDB relatives. FDB patients had 50% to 70% higher mean concentrations of cholesterol, LD...
متن کاملCompound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
BACKGROUND Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. METHODS We used single strand conformation polymorphism (SSCP) and denaturing gra...
متن کاملFlow cytometric assessment of LDL ligand function for detection of heterozygous familial defective apolipoprotein B-100.
BACKGROUND Familial defective apolipoprotein (apo) B-100 (FDB) is caused by a mutation in the apoB gene and characterized by decreased binding of LDL to LDL receptors because of reduced function of the apoB-100 ligand. FDB may be associated with severe hypercholesterolemia and cannot always be distinguished from familial hypercholesterolemia phenotypically. METHODS We used a fluorescence flow...
متن کاملHigh prevalence of familial defective apolipoprotein B-100 in Switzerland.
Familial defective apolipoprotein B-100 (FDB) is caused by a single G-to-A substitution at nucleotide 10,708 leading to an arginine to glutamine change at amino acid 3,500 of the apolipoprotein B-100 and thus, a reduced binding of the apolipoprotein B to the low density lipoprotein (LDL) receptor. In the present study, the prevalence of FDB in Switzerland was estimated, on the one hand, from a ...
متن کاملUsing mutagenic polymerase chain reaction primers to detect carriers of familial defective apolipoprotein B-100.
Familial defective apolipoprotein (apo) B-100 is a genetic trait characterized by an Arg----Gln substitution in position 3500 of the apo B sequence. This genetic defect is associated with greatly increased concentrations of plasma cholesterol and may thus increase the risk of developing premature atherosclerotic disease. We describe here the use of mutagenic polymerase chain reaction primers, w...
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ژورنال
عنوان ژورنال: Arteriosclerosis and Thrombosis: A Journal of Vascular Biology
سال: 1994
ISSN: 1049-8834
DOI: 10.1161/01.atv.14.2.207