Evaluation of the genotyping and phenotyping approaches in the investigation of apolipoprotein (a) size polymorphism

Apoprotein (a) size polymorphism was evaluated at the genotypic and phenotypic level in 110 individuals. Both methods were well correlated with respect to size (r = 0.971), providing that the protein size was expressed as a number of kringle 4 repeats. Despite the fact that the immunoblotting method used was sensitive enough to detect less than 1 ng of lipoprotein (a), 62 samples had single-band phenotypes and one sample had no detectable band, whereas only seven samples had single-band genotypes. The mean size of the alleles coding for the undetected isoforms was significantly larger (141 kb) than for the detected isoforms (123 kb), corroborating the earlier finding of an inverse relationship between the size and the plasma expression level of apoprotein (a). Furthermore, increasing detectability was achieved by loading the gel with different amounts of plasma for each sample. Our results indicate that genotyping is more resolving and more sensitive, but requires a more specialized technology. Phenotyping was carried out using commercially available reagents.