STUDY OF LDL RECEPTOR GENE MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHAHARMAHAL VA BAKHTIARI PROVINCE

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ASADI SOMAYEH; GHATREH SAMANI K.; BANI TALEBI M.; MOBINI GH.R.; SAFAARI CHALESHTORI J.; TAHERZADEH GHAHFAROKHI M.; SHAYESTEH F.; NAZEM H.A.; HAJIHOSSEINI BAGHDADABADI R.; ROUGHANI F.; HASHEMZADEH CHALESHTORI M.

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Journal: Journal of Shahrekord University of Medical Sciences Year:2010 | Volume:11 | Issue:4 Page(s): 27-34

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Title

STUDY OF LDL RECEPTOR GENE MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHAHARMAHAL VA BAKHTIARI PROVINCE

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Keywords

FAMILIAL HYPERCHOLESTEROLEMIAQ3

LDLR GENEQ3

PCRQ2

SSCPQ2

Abstract

Background and aim: FAMILIAL HYPERCHOLESTEROLEMIA is an autosomal dominant inherited disorder, characterized by increased level of low-density lipoprotein cholesterol and lipid accumulation in tendons and arteries. It can cause premature atherosclerosis and increased risk of coronary heart disease (CHD). FAMILIAL HYPERCHOLESTEROLEMIA is caused mainly by mutations in low-density lipoprotein receptor (LDLR) gene. The aim of this study was to analyze the LDLR GENE mutations in a group of patients from Chaharmahal va Bakhtiari province.Methods: in this descriptive-lab based study, 57 suspected FH patients were screened for mutations in promoter and exons 1, 3, 5, 11, 13, 15, 16, 17 and 18 of LDLR GENE using PCR-SSCP strategy.Results: Tow different LDLR GENE variations, including heterozygote mutation 283T>A and polymorphism 1959T>C, were identified in 1 and 9 FH Families studied, respectively.Conclusion: We conclude that LDLR GENE mutation may not be the major cause of FH in the population studied and the cause of FH in chaharmahal va Bakhtiari province remains to be detected in other loci or genes.

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APA: Copy

ASADI, SOMAYEH, GHATREH SAMANI, K., BANI TALEBI, M., MOBINI, GH.R., SAFAARI CHALESHTORI, J., TAHERZADEH GHAHFAROKHI, M., SHAYESTEH, F., NAZEM, H.A., HAJIHOSSEINI BAGHDADABADI, R., ROUGHANI, F., & HASHEMZADEH CHALESHTORI, M.. (2010). STUDY OF LDL RECEPTOR GENE MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHAHARMAHAL VA BAKHTIARI PROVINCE. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 11(4), 27-34. SID. https://sid.ir/paper/58356/en

Vancouver: Copy

ASADI SOMAYEH, GHATREH SAMANI K., BANI TALEBI M., MOBINI GH.R., SAFAARI CHALESHTORI J., TAHERZADEH GHAHFAROKHI M., SHAYESTEH F., NAZEM H.A., HAJIHOSSEINI BAGHDADABADI R., ROUGHANI F., HASHEMZADEH CHALESHTORI M.. STUDY OF LDL RECEPTOR GENE MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHAHARMAHAL VA BAKHTIARI PROVINCE. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2010;11(4):27-34. Available from: https://sid.ir/paper/58356/en

IEEE: Copy

SOMAYEH ASADI, K. GHATREH SAMANI, M. BANI TALEBI, GH.R. MOBINI, J. SAFAARI CHALESHTORI, M. TAHERZADEH GHAHFAROKHI, F. SHAYESTEH, H.A. NAZEM, R. HAJIHOSSEINI BAGHDADABADI, F. ROUGHANI, and M. HASHEMZADEH CHALESHTORI, “STUDY OF LDL RECEPTOR GENE MUTATIONS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN CHAHARMAHAL VA BAKHTIARI PROVINCE,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 11, no. 4, pp. 27–34, 2010, [Online]. Available: https://sid.ir/paper/58356/en

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