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FAMILIAL DEFECTIVE APOLIPORROTEIN B 100: FREQUENCY OF R3500Q MUTATION OF APOLIPOROTEIN B GE E IN IRANIAN HYPERCHOLESTEROLEMIC PATIENTS

Mohammadi-Torbati P نويسنده , Khatami S نويسنده , Zeinal S نويسنده , Taghikhani M نويسنده , Allahyari M نويسنده

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Familial defective apolipoprotein (apo) B 100 (FOB) causes early-onset coronary heart diseases (CHO). 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.

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