"familial defective apoliporrotein b 100: frequency of r3500q mutation of apoliporotein b gene in iranian hypercholesterolemic patients"

familial defective apolipoprotein (apo) b 100 (fdb) causes early-onset coronary heart diseases (chd). it is produced by r3500q mutation of the apob gene resulting in decreased binding of ldl to ldl receptor. we screened the apo b gene for r3500q mutation in 130 hypercholesterolemic patients, among whom 30 patients met criteria of familial hypercholesterolemia (fh). the prevalence of r3500q allele in this patient population was 0%. to obtain better estimation of mutation frequency, a broad survey is needed.