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

Linkage disequilibrium in humans: models and data.

J K Pritchard1, M Przeworski

  • 1Department of Statistics, University of Oxford, Oxford, OX1-3TG, England. pritch@stats.ox.ac.uk

American Journal of Human Genetics
|June 19, 2001
PubMed
Summary

Linkage disequilibrium (LD) in the human genome shows longer distances than predicted by models, challenging geneticists. Understanding factors like admixture and recombination is key for association mapping strategies.

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

Ancient Mammalian and Plant DNA from Late Quaternary Stalagmite Layers at Solkota Cave, Georgia.

Scientific reports·2019
Same author

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice.

Science (New York, N.Y.)·2010
Same author

An approximate likelihood for genetic data under a model with recombination and population splitting.

Theoretical population biology·2009
Same author

Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India.

Annals of human genetics·2008
Same author

Case-control studies of association in structured or admixed populations.

Theoretical population biology·2002
Same author

Deconstructing maize population structure.

Nature genetics·2001

Area of Science:

  • Human genetics
  • Population genetics
  • Genomics

Background:

  • Linkage disequilibrium (LD) describes non-random association of alleles at different loci.
  • Understanding LD patterns is crucial for genetic association studies.
  • Current population-genetic models may not fully capture LD complexities in the human genome.

Purpose of the Study:

  • To review recent empirical and theoretical research on human genome linkage disequilibrium.
  • To compare existing population-genetic model predictions with observed LD data.
  • To identify factors influencing LD and their implications for genetic mapping.

Main Methods:

  • Review of empirical studies on human genome LD.
  • Comparison of theoretical predictions from population-genetic models with empirical data.

Related Experiment Videos

  • Analysis of factors potentially affecting LD, including demographic and genetic elements.

    • Main Results:

    • Observed LD extends over longer genomic distances than predicted by simple models in several studies.
    • Some short, intergenic regions exhibit less LD than expected.
    • Discrepancies highlight missing biological factors in current LD models.

    Conclusions:

    • Demographic factors (e.g., admixture) and genetic factors (e.g., recombination rates, gene conversion, inversions) are critical for accurate LD modeling.
    • Emerging LD patterns necessitate adjustments in association mapping strategies.
    • Determining optimal marker densities for genome-wide association scans requires a better understanding of LD.