Sequencing of exon.4 of the LDL Receptor gene in patients with FamilialHypercholesterolemia with the aim of studying possible new mutations

Introduction & Objectives: Familial hypercholesterolemia (FH) is the most common genetic disease in the world and is a dominant autosomal disease, which is characterized by increased plasma concentrations of low-density lipoprotein cholesterol (LDL). Clinical diagnosis of this condition is based on personal and family history, findings of physical examinations and measurement of high cholesterol concentration. Most FH-linked single-gene causes mutations in one of the three LDL, APOB, and PSCK9 receptor genes, of which about 90% are present in the LDLR gene. So far, all of the exons of the LDL receptor gene have been associated with various types of mutations associated with this disease, but because of the highest percentage of mutations in exon number 4 in studies conducted so far in the world, here we are finding and reviewing These exons were found in patients with familial hypercholesterolemia in Bushehr Province to find a possible mutation in these patients.Materials & Methods: In this study, 32 patients were selected based on global criteria for diagnosis of the disease. The genomic DNA of these patients was extracted by the Gene All extractor kit and its quality and quantity was determined by spectrophotometer and electrophoresis on 1% agarose gel. Then, to determine the possible changes in exon 4, the sequence of the studied samples, PCR and its optimization were performed, and then direct DNA sequencing was performed.Results: No mutation was observed in exon 4 in LDLR gene in patients.Conclusion: The results of this study showed that exon 4 in the LDLR gene does not play a role in the FH in the population studied, and possibly other exons or other areas of the LDLR gene or other genes contribute to the disease, or their hypercholesterolemia is due to lifestyle and has no relation to gene mutations.

کلیدواژه ها:

Familial Hypercholesterolemia ، Sequencing ، LDLR