Variation in the size of human apolipoprotein(a) is due to a hypervariable region in the gene

Hum Genet. 1990 May;84(6):563-7. doi: 10.1007/BF00210810.

Abstract

We have investigated whether the size heterogeneity of the human apolipoprotein(a) [apo(a)] is due to differences in the number of plasminogen kringle 4-like repeat units present in the different alleles. Using the Southern blot hybridization technique and a DNA probe for the kringle 4 domain of plasminogen, we have observed that in 31 different individuals a 5.8-kb PvuII restriction fragment band varies widely in intensity relative to other bands. A strong correlation (r = 0.76, P less than 0.001) was found between apo(a) protein size and the variation in intensity of the detected restriction fragment band. We confirmed this correlation in a large family where the parents are heterozygous for the apo(a) protein size isoforms. The specificity of the 5.8-kb band was established by using an apo(a)-specific oligonucleotide. These correlations strongly suggest that the observed size heterogeneity in apo(a) protein is due to different numbers of copies of the kringle 4 sequence in the apo(a) glycoprotein gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Apolipoproteins A / genetics*
  • Apolipoproteins A / ultrastructure
  • Base Sequence
  • Blotting, Southern
  • DNA Probes
  • Female
  • Genes
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Peptide Fragments / genetics*
  • Phenotype
  • Plasminogen / genetics*
  • Polymorphism, Restriction Fragment Length
  • Regression Analysis
  • Repetitive Sequences, Nucleic Acid

Substances

  • Apolipoproteins A
  • DNA Probes
  • Peptide Fragments
  • Plasminogen