Application of DNA analysis for differential diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B-100

Aim. To determine occurrence of apolipoprotein B-100 mutation in codon 3500 (apoB3500) in patients with primary hypercholesterolemia in Russia. Materials and methods. The study included 71 patients with clinical diagnos is of familial hypercholesterolemia (FH) and 24 relatives. All the subjects were tested for the presence of apoB3500 mutation ruing polymerase chain r eaction and cleavage with restriction enzyme HhaII. Samples demonstrating a nomalous pattern were further analysed by automatic DNA sequencing. Results. Apob3500 mutation was detected in two (2.8%) female patients. In b oth cases cholesterol levels were severely increased although clinical feat ures were different. Conclusion. Some cases of primary hypercholesterolemia in Russia may be due to familial defective apoB-100. Further screening of FH patients is requir ed for a precise estimation of the incidence rate of familial defective apo B-100 in this country.