Molecular analysis of ldlr and apob genes in patients with familial hypercholesterolaemia in Gaziantep and surrounding areas

Familial Hypercholesterolemia (FH) is one of the most common genetic disorders worldwide. One in 500 people is affected by this disease. FH is an autosomal dominant genetic disorder leads to elevation of plasma level of low-density lipoprotein-cholesterol (LDL-C) and increment in the risk of early coronary artery disease and other cardiovascular diseases in the early stages of life. The majority of FH patients have mutations in their gene encoding low-density lipoprotein receptor (LDLR). The other common cause of this disease is APOB gene mutation encoding mutant apolipoprotein B (APOB). Early diagnosis of FH allows chance for early treatments and reduces the risk of death by both coroner artery and other cardiovascular diseases. Molecular methods are considered as a significant diagnostic approach for early diagnosis of the disease. In the present study, we aimed to sequence of genes LDLR and APOB that are considered significantly related with the disease by using Next Generation Sequencing method in 10 patient with FH. We found two pathogenic mutations in LDLR gene in two patients, one homozygote and one heterozygote. We also detected a novel deletion in exon 4, common of four family members. We found pathogenic mutations in APOB gene of five patients, three heterozygote and two homozygote. We also detected mutations which cause hypertriglyceridemia and other apolipoprotein B injuries in this gene. In addition to this, we determined the alternations may affect the course of disease in two genes. Early diagnosis and treatment of hypercholesterolemia are very important and revealing of all mutation in disease-associated genes by Next Generation Sequencing method has great importance for seity diagnosis and determining the course of disease.