Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

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 pres...

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Bibliographic Details
Published in:Iranian biomedical journal 2018-03, Vol.22 (2), p.117-122
Main Authors: Ekrami, Mahdis, Torabi, Maryam, Ghafouri-Fard, Soudeh, Mowla, Javad, Mohammad Soltani, Bahram, Hashemi-Gorji, Feyzollah, Mohebbi, Zahra, Miryounesi, Mohammad
Format: Article
Language:English
Subjects:
APOB gene
Apolipoprotein B
Diagnostic systems
Exons
Full Length
Genetic analysis
Hereditary diseases
Hypercholesterolemia
Kexin
LDLR gene
Lipid metabolism
Low density lipoprotein
Low density lipoprotein receptors
Metabolism
Mutation
Patients
Population studies
Proprotein convertases
Receptor density
Subtilisin
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Summary: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. 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. 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. The results of our study imply that the genetic basis of FH in Iranian patients is different from other populations.
ISSN:1028-852X
2008-823X
DOI:10.22034/ibj.22.2.117