Detection of defective apolipoprotein B-100 R3500Q mutation caused familial hypercholesterolemia in Vietnamese patients

Abstract

Familial defective apolipoprotein B-100 (FDB) is an autosomal codominant disorder associated with hypercholesterolemia, caused by mutations in and around codon 3500 of the Apolipoprotein (Apo) B gene, which encodes Apo B-100. The first mutation occurred in Arginine codons to be described, and the most characterized, is caused by a G→A transition at nucleotide 10,708 leading to the substitution of Arginine by Glutamine at codon 3500 (ApoB R3500Q). In this study, we have applied PCR-Sequencing to identify 27/40 R3500Q mutations in known FDB patients, counting for 68%, in which, most of the patients carried heterozygous mutation R3500Q, 25/27 cases. PCR-Sequencing method that we have applied for this study proved consistent and fast method to identify mutations correctly.