Title of article
FAMILIAL DEFECTIVE APOLIPORROTEIN B 100: FREQUENCY OF R3500Q MUTATION OF APOLIPOROTEIN B GE E IN IRANIAN HYPERCHOLESTEROLEMIC PATIENTS
Author/Authors
F ard-Esfahan, P Pasteur Iinstitute of Iran, تهران, ايران , Mohammadi-Torbati, P shahid beheshti university of medical sciences, تهران, ايران , Khatami, S Pasteur Iinstitute of Iran, تهران, ايران , Zeinal, S Pasteur Iinstitute of Iran, تهران, ايران , Taghikhani, M tarbiat modares university, تهران, ايران , Allahyari, M Pasteur Iinstitute of Iran, تهران, ايران
From page
193
To page
196
Abstract
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.
Keywords
Familial defective apolipoprotein , familial hypercholesterolemia
Journal title
Acta Medica Iranica
Journal title
Acta Medica Iranica
Record number
2529408
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