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.

Cite this paper

@article{Gundersen1996TwoNM, title={Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.}, author={Knut Gundersen and Kari N{\"a}sselqvist Solberg and Olaug K. R\odningen and Serena Tonstad and Leiv Ose and Kristian Berg and Trond P. Leren}, journal={Clinical genetics}, year={1996}, volume={49 2}, pages={85-7} }