Four new mutations and two polymorphic variants of the low-density lipoprotein receptor gene in familial hypercholesterolemia patients from St. Petersburg

In a collection of DNA samples from 100 unrelated patients with clinical fe atures of familial hypercholesterolemia (FH), a search for mutations of exo ns 4 and 10 of the low-density lipoprotein (LDL) receptor gene was performe d using heteroduplex and single-strand conformational polymorphism (SSCP) a nalyses followed by sequencing of amplified DNA fragments. Four new mutatio ns of the LDL receptor gene were identified: C146R (c.499 T > C), A130P (c. 451 G > C), G128G (c.477 T > C), and C188Y (c.626 G > A). Mutation A130P wa s assigned to the same chromosome with allele variant 447C. Two polymorphic sites in exon 10 of the LDL receptor gene (1413G/A and 1545C/T) were found in the Russian population for the first time. Based on the data obtained, familial hypercholesterolemia was confirmed in seven patients.