Volume 13, Issue 4 (1-2011)
J Arak Uni Med Sci 2011, 13(4): 30-37 |
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Shayesteh F, Farrokhi E, Shirani M, Modarresi M, Roghani F, Hashemzadeh M. The study of mutations of the 9 exons of LDLR gene in patients with familial hypercholesterolemia in Cheharmahal Bakhtiari province. J Arak Uni Med Sci 2011; 13 (4) :30-37
URL: http://jams.arakmu.ac.ir/article-1-520-en.html
URL: http://jams.arakmu.ac.ir/article-1-520-en.html
Fatemeh Shayesteh 
, Effat Farrokhi , Manochehr Shirani , Mehrdad Modarresi , Farshad Roghani , Morteza Hashemzadeh 1
, Effat Farrokhi , Manochehr Shirani , Mehrdad Modarresi , Farshad Roghani , Morteza Hashemzadeh 1
1- , mchalesh@yahoo>com
Abstract: (14451 Views)
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.
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