The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene

Clinical Genetics
J K NaggertP M Nishina

Abstract

The atherogenic lipoprotein phenotype (ALP) is a common heritable trait characterized by a predominance of small, dense low density lipoprotein particles (subclass pattern B), increased levels of triglyceride-rich lipoproteins, reductions in high density lipoproteins, and an increased risk for myocardial infarction. In a previous linkage study of 11 families, evidence for tight linkage of subclass pattern B with the LDL receptor (LDLR) locus on chromosome 19p13.2 was obtained. To test whether a mutation in the structural portion of the LDLR gene could be responsible for the phenotype, we first sequenced the exons of the receptor binding domain for each pair of parents in these 11 pedigrees. For the remaining portion of the LDLR coding region, exons as well as cloned LDLR cDNAs were sequenced for selected members of the pedigrees. No mutations that changed the amino acid sequence of the LDLR were found. We conclude that it is unlikely that a mutant allele of the LDLR protein is responsible for ALP.

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Citations

Jul 17, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maren T Scheuner
Apr 3, 2004·Journal of Lipid Research·Yohan BosséMarie-Claude Vohl
Sep 18, 2002·Journal of Lipid Research·Kaspar K Berneis, Ronald M Krauss
Feb 13, 2001·The Journal of Nutrition·R M Krauss

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