THE STUDY OF MUTATIONS OF THE 9 EXONS OF LDLR GENE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHEHARMAHAL BAKHTIARI PROVINCE

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SHAYESTEH F.; FAROKHI EFAT; SHIRANI M.; MODARESI MEHRDAD; ROUGHANI F.; HASHEMZADEH CHALESHTORI M.

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Journal: Journal of Arak University Medical Sciences Year:2011 | Volume:13 | Issue:4 (53) Page(s): 31-37

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Title

THE STUDY OF MUTATIONS OF THE 9 EXONS OF LDLR GENE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHEHARMAHAL BAKHTIARI PROVINCE

Author(s)

Keywords

FHQ3

LDLRQ3

PCR-SSCPQ3

Abstract

Background: Familial hypercholesterolemia (FH) is a disorder with autosomal dominant pattern caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B-100. The aim of this study was to investigate the frequency and type of LDLR gene mutations in an Iranian population of patients with high blood cholesterol.Materials and Methods: In this descriptive-lab based study, a total of 50 non-related possible FH subjects from Cheharmahal Bakhtiari were studied. All subjects were tested for presence of LDLR gene mutations in 9 exons of the LDLR gene including 2, 4, 6, 7, 8, 9, 10, 12, and 14. The shifted bands were detected on electrophoresis gels and confirmed by subsequent DNA sequencing method. Results: Overall, four different polymorphisms were identified in 18% of the patients. We found 1413G>A, 1725C>T and 1773C>T, 2140+5G>A in 2,23,2 and 2 subjects respectively from which 1413G >A and 1773C>T were detected in both alleles of the gene.Conclusion: The results did not indicate the involvement of LDLR gene mutations of FH in the samples studied.

Cites

A STUDY ON MUTATION OF THE EXON 10 OF THE LDLR GENE IN HYPERCHOLESTEROLEMIA PATIENTS IN ARDEBIL, IRAN

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APA: Copy

SHAYESTEH, F., FAROKHI, EFAT, SHIRANI, M., MODARESI, MEHRDAD, ROUGHANI, F., & HASHEMZADEH CHALESHTORI, M.. (2011). THE STUDY OF MUTATIONS OF THE 9 EXONS OF LDLR GENE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHEHARMAHAL BAKHTIARI PROVINCE. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), 13(4 (53)), 31-37. SID. https://sid.ir/paper/358938/en

Vancouver: Copy

SHAYESTEH F., FAROKHI EFAT, SHIRANI M., MODARESI MEHRDAD, ROUGHANI F., HASHEMZADEH CHALESHTORI M.. THE STUDY OF MUTATIONS OF THE 9 EXONS OF LDLR GENE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHEHARMAHAL BAKHTIARI PROVINCE. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ)[Internet]. 2011;13(4 (53)):31-37. Available from: https://sid.ir/paper/358938/en

IEEE: Copy

F. SHAYESTEH, EFAT FAROKHI, M. SHIRANI, MEHRDAD MODARESI, F. ROUGHANI, and M. HASHEMZADEH CHALESHTORI, “THE STUDY OF MUTATIONS OF THE 9 EXONS OF LDLR GENE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHEHARMAHAL BAKHTIARI PROVINCE,” ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), vol. 13, no. 4 (53), pp. 31–37, 2011, [Online]. Available: https://sid.ir/paper/358938/en

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