EcoRI-RFLP of the Apo B gene: a study in a sample group from south Italy

EcoRI restriction analysis at codon 4154 of the Apo B gene was performed in a sample of 90 subjects from southern Italy (sample S), using total blood cell DNA amplified by PCR. A group of 46 subjects from northern Italy (sample N) was also investigated for comparison. Southern Italians showed an incidence of the R2 allele (absence of the cutting site) twice as high as that found in northern Italians (48 v. 21%). By ASPCR the mutation which abolishes the restriction site was confirmed as being G----A at the first base of the 4154 codon of the Apo B gene (Glu----Lys) in both S and N samples. By studying the variability of cholesterolaemia among different EcoRI genotypes in the S sample, it was estimated that the average effect of the R2 allele is to lower serum cholesterol by 8.5 mg/dl.