摘要
aims: 1) to study lipoprotein (a) (lp(a)) plasma values in subjects with familial ligand-defective apo b 100 (fdb) . methods: we studied 19 heterozygous fdb subjects (8 males) from 12 families, carriers of r3500q mutation on apo b gene and 90 controls (34 males). the genetic diagnosis was established with pcr-sscp analysis and automatic sequencing. in all subjects plasma lipids, apolipoprotein b and lp(a) levels were determined with standard procedures. results: subjects carriers of r3500q mutation on apo b gene have significantly higher plasma lp(a) and log transformed lp(a) values and prevalence of lp(a) %26gt; 30 cut point for coronary heart disease than controls. conclusions: subjects with fdb showed higher lp(a) plasma values than controls, although the mechanism and the clinical consequences of these result are not known.