Molecular Characterization of Iranian Patients with Possible Familial Hypercholesterolemia |
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| Authors: | E Farrokhi F Shayesteh S Asadi Mobarakeh F Roghani Dehkordi K Ghatreh Samani M Hashemzadeh Chaleshtori |
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| Institution: | (1) Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran;(2) Department of Biology, School of Basic Sciences, Payam-e-noor University, Esfahan Center, Esfahan, Iran;(3) Department of Biochemistry, School of Basic Sciences, Payam-e-noor University, Tehran Center, Tehran, Iran;(4) Department of Cardiology, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran; |
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| Abstract: | 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. |
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| Keywords: | FH APOB LDLR Iran |
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