Abstract Familial hypercholesterolemia (FH) is an autosomal
dominant disorder of lipoprotein metabolism caused
mainly by mutations in the low-density lipoprotein receptor
(LDLR) and apolipoprotein B 100 (APOB) genes. 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 characterize the LDLR and APOB gene mutations in
an Iranian population. A total of 30 non-related Iranian
possible FH subjects were studied. Diagnosis of FH was
based on the Dutch Lipid Clinic Network diagnostic criteria.
All samples were initially tested for three common
APOB gene mutations including R3500Q, R3500 W and
R3531C using PCR-RFLP assay. Subsequently, promoter
and coding region of the LDLR gene was screened by PCRSSCP
analysis and positive results were confirmed by DNA
sequencing. Four previously reported polymorphisms
1413G [A, 1725C [T, 1773T [C and 2140 ? 5G[A
were found in *17% (5/30) of population studied.
Moreover, no variation was found in APOB gene. Our data
indicated that LDLR and APOB gene mutations have not
contribution to possible FH in Iranian population studied
here. However, we examined three common APOB mutations
and LDLR in only 30 patients, and to determine the
role of these genes in developing FH in Iran, more FH
samples and populations needed to be investigated for the
mutations of the related gene