[Application of DNA analysis for differential diagnosis of familial hypercholesterolemia and familial defect of apolipoprotein b-100]. / Differentsial'naia diagnostika s pomoshch'iu analiza DNK seme'ino'i giperkholesterolemii i seme'inogo defekta APOB-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 diagnosis of familial hypercholesterolemia (FH) and 24 relatives. All the subjects were tested for the presence of apoB3500 mutation using polymerase chain reaction and cleavage with restriction enzyme HhaII. Samples demonstrating anomalous pattern were further analysed by automatic DNA sequencing. RESULTS: Apob3500 mutation was detected in two (2.8%) female patients. In both cases cholesterol levels were severely increased although clinical features were different. CONCLUSION: Some cases of primary hypercholesterolemia in Russia may be due to familial defective apoB-100. Further screening of FH patients is required for a precise estimation of the incidence rate of familial defective apoB-100 in this country.