tailieunhanh - Identification of mutations in exons 3 and 4 of the LDL-Receptor gene in patients with familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism. FH is characterized by raised serum LDL - C levels, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. More than 80% of the time, FH is caused by mutations in the LDL receptor. The LDL receptor consists of 18 exons, and the largest number of LDLR mutations are believed to be in exons 4 and 3. The aim of our study was to examine mutations in exons 3 and 4 of the LDLR gene in Vietnamese patients with FH. The sample group consisted of 50 Vietnamese patients diagnosed with FH, based on Medped (USA) criteria. Blood samples were taken after an overnight fast for determination of lipoprotein parameters and DNA extraction. Polymerase chain reactions were performed to amplify exon 3 and 4 of LDL receptor gene, after which direct sequencing was done. Of the 50 FH patients in our sample, 9 patients were found to have mutations in exons 3 and 4 of the LDL receptor gene. These mutations included: mutation D69N (exon3), and mutations D206E, D147Y,C201R (exon 4). | Identification of mutations in exons 3 and 4 of the LDL-Receptor gene in patients with familial hypercholesterolemia