"FAMILIAL DEFECTIVE APOLIPORROTEIN B 100: FREQUENCY OF R3500Q MUTATION OF APOLIPOROTEIN B GENE IN IRANIAN HYPERCHOLESTEROLEMIC PATIENTS"

Abstract

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.