title: Restriction isotyping of the premature termination variant of lipoprotein lipase in Alberta Hutterites.
abstract: OBJECTIVE
  Lipoprotein lipase (LPL) plays a pivotal role in lipoprotein metabolism. A relatively common LPL variant results from a C --> G transversion in exon 9, which creates a premature termination codon (S447X) and results in a truncated LPL molecule lacking the C-terminal dipeptide Ser-Gly. We wished to determine the functional relevance of this variant.
  
  
  METHODS
  We used Mn/l restriction digestion of amplified genomic DNA to genotype Alberta Hutterites for the S447X variant. We tested for association with biochemical phenotypes.
  
  
  RESULTS
  Complete linkage disequilibrium between alleles of an LPL genomic variant in intron 6 and LPL S447X was detected. However, as a single independent variable, LPL S447X genotype was not significantly associated with variation in any dependent biochemical variable in the Hutterites.
  
  
  CONCLUSIONS
  Restriction isotyping for S447X permits large-scale screening of individuals to identify linkage relationships between this marker and other DNA variations of LPL and to study associations with clinical phenotypes.
authors.affiliation: Department of Medicine, St. Michael's Hospital and University of Toronto, Ontario, Canada.
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
authors.forename: S
authors.initials: S
authors.lastname: Gandhi
authors.forename: J H
authors.initials: JH
authors.lastname: Brunt
authors.forename: P W
authors.initials: PW
authors.lastname: Connelly
mesh_terms: D000416:Alberta; D000483:Alleles; D018388:Codon, Terminator / Q000235:genetics*; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008071:Lipoprotein Lipase / Q000737:chemistry / Q000235:genetics*; D008297:Male; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D015183:Restriction Mapping
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D005819:Genetic Markers; D008071:Lipoprotein Lipase