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Common Mutations in LDLR Gene in Familial Hypercholesterolemia
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Fatemeh Vali Mohammadi Rahmani    1, Hossin Rasi2 , Vajiheh Zarrinpour3 |
1- M.Sc in Biology - Genetics, Department of Faculties of Basic Sciences, Damghan Branch, Islamic Azad University, Damghan, Iran. , farnazrahmani33@yahoo.com
2- Assistant Professor, Department of of Biology, Karaj Branch, Islamic Azad University, Karaj, Iran.
3- Assistant Professor, Department of of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran. |
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Abstract: (3048 Views) |
Background and Objective: Familial hypercholesterolemia (FH) is one of the most common inherited familial diseases that cause lipid accumulation in tendons and arteries by increasing the level of low density plasma lipoprotein (LDL). The main cause of FH is a mutation in the low-density lipoprotein receptor (LDLR) gene. This study was performed to evaluate common mutations in LDLR gene in FH patients.
Methods: This descriptive study was performed on 100 patients with suspected familial hypercholesterolemia referred to Sepehr laboratory according to the Simon Broom international standard in Karaj city, Iran during 2015. After complate the questionnaire form and drawing the family tree, it was found that 17 of them had a history of disease in at least one of the first degree relatives. The presence of changes was investigated using PCR-SSCP method, and after identifying the suspected cases direct DNA sequencing was performed.
Results: Among of 17 patients with a history of FH disease, 13 patients had a heterozygote mutation in the LDLR gene. Mutations included: c.97C>T, c.445G>T, c.651-653 (DEL3), c.652-654 (DEL3), c.682G>T, c.925-931 (DEL7), c.936-940 (DEL5), c.986G>T, c.2054C>T, c.2177C>T and c.313+1G>A. Four patients did not have mutations in their LDLR gene. In two patients the common polymorphism c.1959T>C was identified.
Conclusion: The LDLR gene was involved in the development of FH in the study population. However, another gene or locus may be involved in the outbreak of this disease in the studied population. |
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Keywords: Familial hypercholesterolemia [MeSH], LDL [MeSH], Mutation [MeSH], LDLR [MeSH]
Article ID: Vol23-59 |
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Full-Text [PDF 699 kb]
(12617 Downloads)
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Type of Study: Original Articles |
Subject:
Genetic
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