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Related Experiment Videos

Expressed hypervariable polymorphism of apolipoprotein (a).

M I Kamboh1, R E Ferrell, B A Kottke

  • 1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15621.

American Journal of Human Genetics
|November 1, 1991
PubMed
Summary
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This study identified 23 apolipoprotein (APO) (a) isoforms and suggests at least 24 alleles, including a null allele, at the APO(a) structural locus. These findings advance our understanding of LP(a) and atherosclerosis risk.

Area of Science:

  • Molecular genetics
  • Cardiovascular disease research
  • Biochemistry

Background:

  • Elevated plasma lipoprotein (a) [LP(a)] levels are a key predictor of premature atherosclerosis.
  • The LP(a) particle comprises apolipoprotein (APO) B and APO(a); APO(a) exhibits genetic polymorphism.
  • Previous studies documented 6-11 APO(a) alleles, but a comprehensive analysis was lacking.

Purpose of the Study:

  • To investigate the genetic polymorphism of apolipoprotein (a) [APO(a)] using a high-resolution method.
  • To determine the number of APO(a) alleles and identify potential null alleles.
  • To establish a more precise understanding of APO(a) genetic diversity and its implications for LP(a) levels.

Main Methods:

  • Employed high-resolution SDS-agarose electrophoresis followed by immunoblotting.

Related Experiment Videos

  • Screened APO(a) polymorphism in 54 families (130 offspring) and 140 unrelated individuals.
  • Analyzed segregation patterns of single-banded phenotypes to identify true homozygotes and heterozygotes for a null allele.

    • Main Results:

    • Identified 23 distinct APO(a) isoforms, confirming their genetic basis in family studies.
    • Family data suggested the existence of a 'null' APO(a) allele in addition to the 23 detected alleles.
    • Observed 115 out of 276 predicted phenotypes, with 22.6% single-banded phenotypes in the total sample.

    Conclusions:

    • Hypothesize the existence of at least 24 alleles, including a null allele, at the APO(a) structural locus.
    • The high-resolution method revealed greater APO(a) polymorphism than previously reported.
    • Further research into APO(a) allele frequencies and their association with LP(a) levels and atherosclerosis is warranted.