title: A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family.
abstract: We describe a new case of lipoprotein lipase deficiency in a proband from a Southern-Italian family. Enzyme activity and mass were absent. Amplification and sequencing of individual exons, intron boundaries and the regulatory region revealed only one homozygous G----C transversion at the first nucleotide of intron 1. The single strand conformation polymorphism analysis proved to be a helpful tool for the identification of the single base mutation. Northern hybridization failed to reveal the presence of mature lipoprotein lipase mRNA. The mutation, which destroys the conserved dinucleotide at the junction site of intron 1, causes defective mRNA splicing and it is responsible for the deficiency.
authors.affiliation: CNR-CSMME, Bari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Chimienti
authors.forename: A
authors.initials: A
authors.lastname: Capurso
authors.forename: F
authors.initials: F
authors.lastname: Resta
authors.forename: G
authors.initials: G
authors.lastname: Pepe
mesh_terms: D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000737:chemistry / Q000235:genetics; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D007438:Introns; D007558:Italy; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D004247:DNA; D008071:Lipoprotein Lipase