en Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کامل Full Length/Original Article <p><strong>Background:</strong> Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (<em>LDLR</em>), apolipoprotein B 100 (<em>APOB</em>), and proprotein convertase subtilisin/kexin type 9 (<em>PCSK9</em>) genes. In the present study, we aimed at identifying the common <em>LDLR</em> and <em>APOB</em> gene mutations in an Iranian population. <strong>Methods:</strong> Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome&nbsp;diagnostic criteria. All samples were screened for two common <em>APOB</em> gene mutations, including R3500Q and R3500W, by the means of ARMS-PCR and PCR- RFLP assays, respectively. In addition, exons 3, 4, 9, and 10 of <em>LDLR</em> gene were sequenced in all patients. <strong>Results:</strong> A novel mutation in exon 3 (C95W) and a previously described mutation in exon 4 (D139H) of <em>LDLR </em>gene were found. Three previously reported polymorphisms in <em>LDLR</em> gene as well as three novel polymorphisms were detected in the patients. However, in the studied population, no common mutations were observed in <em>APOB</em> gene. <strong>Conclusion:</strong> The results of our study imply that the genetic basis of FH in Iranian patients is different from other populations.</p> Apolipoprotein B 100, Hypercholesterolemia, Genetics, Low-density lipoprotein receptor 117 122 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-679&slc_lang=en&sid=1 Mahdis Ekrami No Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran Maryam Torabi No Department of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran Soudeh Ghafouri-Fard No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran Javad Mowla No Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran Bahram Mohammad Soltani No Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran Feyzollah Hashemi-Gorji No Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Zahra Mohebbi No Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran Mohammad Miryounesi Yes Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran