Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene

Am J Hum Genet. 1990 Oct;47(4):721-6.

Abstract

Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution (Ser----Thr244), while the other alters the 3' splice site of intron 2 (AG----AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Apolipoproteins / blood
  • Base Sequence
  • Child
  • Cloning, Molecular
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Heterozygote*
  • Humans
  • Hyperlipoproteinemia Type I / genetics
  • Introns
  • Lipids / blood
  • Lipoprotein Lipase / deficiency
  • Lipoprotein Lipase / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Plasmids / genetics
  • Serine / genetics*
  • Threonine / genetics*

Substances

  • Apolipoproteins
  • Lipids
  • Threonine
  • Serine
  • DNA
  • Lipoprotein Lipase