Study of three common ApoB gene mutations in possible familial hypercholesterolemia patients in Cheharmahal va Bakhtiari province, Iran, 2003

Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (ApoB).Until now, the molecular basis of FH has been demonstrated in detail in many populations, but there is still very limited molecular data concerning FH in Iran. The aim of this study was to investigate frequency of 3 common Apo-B100 gene mutations in an Iranian population. In this descriptive –lab based study a total of 30 non-related possible FH subjects from Cheharmahal va Bakhtiari were studies. All samples were tested for 3 common Apo-B100 gene mutations including R3500Q, R3500W and R3531C using PCR-RFLP procedure. None of the common Apo-B100 mutations R3500Q, R3500W and R3531C were detected in samples examined using PCR-RFLP. Our data indicated that Apo-B100 gene mutations have not contribution to FH in samples studied here. However, we examined 3 common Apo-B100 mutations in only 30 patients, and to determine the role of mutations of this gene in developing FH in Cheharmahal va Bakhtiari province, more FH samples/populations needed to be investigated.