Diagnosis of familial hypercholesterolemia at pre-clinical stage by analysis of DNA

A novel mutation in the low density lipoprotein receptor gene (230insG) was found by a DNA single strand conformation analysis in a patient with clini cal diagnosis of familial hypercholesterolemia. Analysis of DNA of relative s of the patient resulted in detection of two mutation carriers without cli nical signs of atherosclerosis. These patients will be followed up with the aim of delineation of phenotypic characteristics of this mutation and asse ssment of efficacy of primary prevention of atherosclerosis in its carriers . The study has demonstrated possibility of diagnosis of familial hyperchol esterolemia on pre-clinical stage by means of DNA-analysis.