Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.

摘要: To obtain insight into the genetic variation of low-density lipoprotein (LDL) receptor gene in Korean patients with familial hypercholesterolemia (FH), we used single-strand conformation polymorphism to screen all 18 exons and a promotor LDL 20 unrelated FH patients. Four novel point mutations were detected 5 characterized by sequence analysis. Of them, one is nonsense mutation, Glu → Stop (CAG TAG) at codon 161, results large deletion. The other three, which Ala (GCG GAG) mutation signal peptide, Cys Tyr (TGC TAC) 210, Pro Leu (CTG CCG) 584, missense mutations, modified highly conserved region gene. All these absent normolipidemic controls associated heterozygote carriers clinical signs FH. Identification provides another example molecular heterogeneity causing