Detecting familial defective apolipoprotein B-100 R3500Q in Vietnamese patients by PCR-sequencing

Tóm tắt

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 and results in the substitution of Arginine by Glutamine at codon 3500 (ApoB R3500Q). In this study, we have identified 27 R3500Q mutations in known FDB patients using PCRSequencing method. As the result, most of the patients carried heterozygous mutation R3500Q. PCR-Sequencing method that we have applied in this study proved consistent and so easily identified mutations correctly.