title: Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene.
abstract: The very low density lipoprotein receptor (VLDLR) has a potentially important role in lipoprotein metabolism and Alzheimer's disease. We developed amplification primers for most of the coding region and 3'-untranslated region of VLDLR and used sequencing of genomic DNA to examine these regions of VLDLR in subjects with familial combined hyperlipidemia and in normal controls. We identified ten novel single nucleotide polymorphisms (SNPs) for VLDLR. We also found one rare coding sequence variant, S>R153, in a subject with familial combined hyperlipidemia, which was absent from 2360 normal alleles. The identification of intron-exon boundaries, amplification primers, and SNPs provides tools to investigate VLDLR for genetic association and linkage studies.
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, John P. Robarts Research Institute, London, ON, Canada.
authors.forename: S E
authors.initials: SE
authors.lastname: Near
authors.forename: J
authors.initials: J
authors.lastname: Wang
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D020413:3' Untranslated Regions / Q000032:analysis; D000483:Alleles; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000235:genetics / Q000378:metabolism*; D007438:Introns; D008079:Lipoproteins, VLDL / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D008079:Lipoproteins, VLDL; D011973:Receptors, LDL; C036053:VLDL receptor