title: Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
abstract: In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme. Hybridization with allele-specific oligonucleotides at this position established that the patient was homozygous for this mutation. This mutation must lead to the synthesis of a sharply truncated protein, accounting for the enzymatic deficiency noted in the patient.
authors.affiliation: Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.
authors.forename: M
authors.initials: M
authors.lastname: Emi
authors.forename: A
authors.initials: A
authors.lastname: Hata
authors.forename: M
authors.initials: M
authors.lastname: Robertson
authors.forename: P H
authors.initials: PH
authors.lastname: Iverius
authors.forename: R
authors.initials: R
authors.lastname: Hegele
authors.forename: J M
authors.initials: JM
authors.lastname: Lalouel
mesh_terms: D001483:Base Sequence; D003360:Cosmids; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology / Q000235:genetics*; D006951:Hyperlipoproteinemias / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA; D008071:Lipoprotein Lipase