Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The apolipoprotein (a) gene: a transcribed hypervariable locus controlling plasma lipoprotein (a) concentration.

H G Kraft1, S Köchl, H J Menzel

  • 1Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Austria.

Human Genetics
|November 1, 1992
PubMed
Summary

The apolipoprotein(a) [apo(a)] gene size polymorphism explains most of the variation in Lipoprotein(a) [Lp(a)] levels. However, the DNA size difference accounts for only 46% of this variability, suggesting other factors within the apo(a) gene influence Lp(a) levels.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Clinical genetics·2013
Same author

Lipoprotein(a): resurrected by genetics.

Journal of internal medicine·2012
Same author

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Cytogenetic and genome research·2012
Same author

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

Clinical genetics·2010
Same author

Whole genome amplification from microdissected chromosomes.

Cytogenetic and genome research·2009
Same author

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Journal of medical genetics·2007

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Disease Risk Factors

Background:

  • Lipoprotein(a) [Lp(a)] is a key plasma quantitative trait and a risk factor for coronary heart disease.
  • The apolipoprotein(a) [apo(a)] gene's size polymorphism is a major determinant of Lp(a) levels.
  • Understanding the genetic basis of apo(a) size polymorphism is crucial for elucidating Lp(a) regulation.

Purpose of the Study:

  • To investigate the genetic basis of apo(a) size polymorphism.
  • To determine the relationship between apo(a) DNA size and plasma Lp(a) levels.
  • To quantify the effect of the apo(a) gene on Lp(a) levels using a sib-pair approach.

Main Methods:

  • Pulsed field gel electrophoresis of genomic DNA with restriction enzymes (SwaI, KpnI, KspI, SfiI, NotI).

Related Experiment Videos

  • Hybridization using an apo(a) kringle-IV-specific probe to detect DNA polymorphism.
  • Sib-pair analysis of 253 sib-pairs from 64 families to assess Lp(a) level correlations.

    • Main Results:

    • Identified 26 different apo(a) DNA alleles ranging from 32 kb to 189 kb, differing by 5.6 kb increments (one kringle IV unit).
    • Demonstrated a perfect correlation between apo(a) DNA phenotype size and plasma apo(a) isoform size.
    • Found high intra-class correlation for Lp(a) levels in sib-pairs sharing both (r=0.91), one (r=0.31), or no (r=0.12) parental apo(a) alleles.

    Conclusions:

    • Variation at the apo(a) locus almost entirely explains intra-individual variability in Lp(a) levels.
    • The apo(a) DNA size polymorphism accounts for only 46% of the variability in Lp(a) levels.
    • Suggests additional heterogeneity within the apo(a) gene influences Lp(a) levels, beyond the identified size polymorphism.