Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
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Gundersen KE, Solberg K, Rodningen OK, Tonstad S, Ose L, Berg K, Leren TP
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
Clin Genet. 1996 Feb;49(2):85-7.
- PubMed ID
- 8740918 [ View in PubMed]
- 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.