The characteristics of APOB and LDLR gene mutations in Vietnamese patients with hypercholesterolemia

Abstract

Hypercholesterolemia is known as Familial Hypercholesterolemia (FH) that is caused by the presence of mutations in APOB and LDLR genes. Study was conducted to analysis the genetic characteristics of exon 26 APOB gene and exon 4 LDLR gene in Vietnamese patients with hypercholesterolemia, by performing the combination of PCR and Sanger sequencing. On total of 37 blood samples, the study found out the mutation frequencies of APOB and LDLR genes were 32.42% and 35.10%, respectively. Rate of mutations which occurred on both of those target genes in one same sample was 10.81%. Some novel variants were characterized, namely c.10550C>G (p.A3517G), c.10575C>A (p.S3525R), and c.10560C> (p.Y3520*) in APOB gene; c.21038C>T (p.P171L), c.21001A>T (p.T159S), and insC376 (c.ins20903C) in LDLR gene. Results of this study are critical data onto supporting the development of effective tools for diagnosis and early treatment of hypercholesterolemia as FH in Vietnam.