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Paper Information

Journal:   SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES JOURNAL   WINTER 2010 , Volume 11 , Number 4; Page(s) 27 To 34.
 
Paper: 

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

 
 
Author(s):  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.*
 
* CELLULAR AND MOLECULAR RESEARCH CENTER MEDICAL FACULATY, RAHMATIEH, SHAHREKORD, IRAN
 
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.

 
Keyword(s): FAMILIAL HYPERCHOLESTEROLEMIA, LDLR GENE, PCR, SSCP
 
References: 
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