title: Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
abstract: We have employed analysis of single-strand conformation polymorphisms to identify mutations in the low density lipoprotein receptor gene causing familial hypercholesterolemia. Two familial hypercholesterolemia heterozygotes had abnormal single-strand conformation polymorphism patterns of exons 4 and 8. DNA sequencing revealed that the abnormal pattern of exon 4 was due to heterozygosity (G/T) at nucleotide 502. Nucleotide 502 is the first base of codon 147, and the G->T mutation (D147Y) changes this codon from AspGAC to TyrUAC. The abnormal pattern of exon 8 was due to heterozygosity (A/G) at nucleotide 1097. Nucleotide 1097 is the second base of codon 345, and the A->G mutation (Q345R) changes this codon from GlnCAG to ArgCGG. Based upon screening of 437 unrelated familial hypercholesterolemia heterozygotes, both D147Y and Q345R account for about 0.5% of the mutations causing familial hypercholesterolemia in Norway.
authors: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
authors: K E
authors: KE
authors: Gundersen
authors: K
authors: K
authors: Solberg
authors: O K
authors: OK
authors: Rødningen
authors: S
authors: S
authors: Tonstad
authors: L
authors: L
authors: Ose
authors: K
authors: K
authors: Berg
authors: T P
authors: TP
authors: Leren
mesh_terms: D001483:Base Sequence; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL