2 NOVEL SLAVIC POINT MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN PATIENTS WITH FAMILIAR HYPERCHOLESTEROLEMIA FROM ST. PETERSBURG, RUSSIA

Using PCR-single-strand conformation polymorphism analysis, followed b y sequencing of the abnormal samples, two novel point mutations in the 5' end of the fourth exon of the low-density lipoprotein receptor gen e were found in two Russian families with familial hypercholesterolemi a. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cystei ne-rich repeat of the ligand-binding domain of the low-density lipopro tein receptor. Hypercholesterolemia segregated with the identified mut ations. (C) 1998 Academic Press.