Volume 22, Issue 2 (3-2018)                   ibj 2018, 22(2): 117-122 | Back to browse issues page

XML Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Ekrami M, Torabi M, Ghafouri-Fard S, Mowla J, Mohammad Soltani B, Hashemi-Gorji F, et al . Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia. ibj. 2018; 22 (2) :117-122
URL: http://ibj.pasteur.ac.ir/article-1-2129-en.html

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Methods: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria. All samples were screened for two common APOB 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 LDLR gene were sequenced in all patients. Results: A novel mutation in exon 3 (C95W) and a previously described mutation in exon 4 (D139H) of LDLR gene were found. Three previously reported polymorphisms in LDLR gene as well as three novel polymorphisms were detected in the patients. However, in the studied population, no common mutations were observed in APOB gene. Conclusion: The results of our study imply that the genetic basis of FH in Iranian patients is different from other populations.

Type of Study: Full Length | Subject: Molecular Genetics & Genomics

Add your comments about this article : Your username or Email:

© 2020 All Rights Reserved | Iranian Biomedical Journal

Designed & Developed by : Yektaweb