Molecular characterization of Iranian patients with possible familial hypercholesterolemia.

Farrokhi, Effat. and Shayesteh, Fatemeh. and Asadi Mobarakeh, S. and Roghani Dehkordi, F. and Ghatreh Samani, Keihan. and Hashemzadeh-Chaleshtori, Morteza. (2011) Molecular characterization of Iranian patients with possible familial hypercholesterolemia. Indian Journal of Clinical Biochemistry, 26 (3).


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Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B 100 (APOB) genes. Until now, the molecular basis of FH has been demonstrated in detail in many populations, but there is still very limited Molecular data concerning FH in Iran. The aim of this study was to characterize the LDLR and APOB gene mutations in an Iranian population. A total of 30 non-related Iranian possible FH subjects were studied. Diagnosis of FH was based on the Dutch Lipid Clinic Network diagnostic criteria. All samples were initially tested for three common APOB gene mutations including R3500Q, R3500 W and R3531C using PCR-RFLP assay. Subsequently, promoter and coding region of the LDLR gene was screened by PCR-SSCP analysis and positive results were confirmed by DNA sequencing. Four previously reported polymorphisms 1413G > A, 1725C > T, 1773T > C and 2140 + 5G > A were found in ~17% (5/30) of population studied. Moreover, no variation was found in APOB gene. Our data indicated that LDLR and APOB gene mutations have not contribution to possible FH in Iranian population studied here. However, we examined three common APOB mutations and LDLR in only 30 patients, and to determine the role of these genes in developing FH in Iran, more FH samples and populations needed to be investigated for the mutations of the related genes.

Item Type: Article
Uncontrolled Keywords: FH APOB LDLR Iran In
Subjects: QU Biochemistry
QU Biochemistry > Cell biology and genetics
Divisions: Faculty of Medicine > Department of Clinical Sciences > Department of Cardiology
Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: Users 1 not found.
Date Deposited: 17 Dec 2017 07:45
Last Modified: 23 Jul 2018 06:39

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