A Study on Mutation of the Exon 10 of the LDLR gene in Hypercholesterolemia Patients in Ardebil, Iran

Familial hypercholesterolemia (FH) is an autosomal dominant disease mainly attributed to mutations in the low-density lipoprotein receptor gene (LDLR). This study aims to investigate molecular changes in the LDLR gene in patients with high cholesterol in individuals from Ardebil Province, Iran.
We evaluated 100 patients with suspected FH from Ardebil Province. DNA samples using primers LDLR gene and exon 10 PCR-SSCP method was tested and modified bands on gel electrophoresis detected and subsequently examined by DNA sequencing.
We evaluated 100 patients with suspected FH, 43 males and 66 females. The average age of 50.68 and 281.81 had average cholesterol levels of the subjects. In this study, we identified a polymorphism 1413G(A LDLR gene. Allele G, 70% of the population studied and the A allele is 30% of the subjects to be included.
The findings of this study showed that polymorphism of the LDLR gene in FH 1413GA was not the main role, but could indirectly affect, and possibly other exons of the gene or other genes in the development of FH in the region have.