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Related Experiment Videos

Using haplotype blocks to map human complex trait loci.

Lon R Cardon1, Gonçalo R Abecasis

  • 1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. lon.cardon@well.ox.ac.uk

Trends in Genetics : TIG
|March 5, 2003
PubMed
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The HapMap project is characterizing human genome linkage disequilibrium (LD) patterns. Pilot studies reveal haplotype blocks, raising questions about recombination and disease gene discovery.

Area of Science:

  • Human genetics
  • Population genetics
  • Genomics

Background:

  • Linkage disequilibrium (LD) is crucial for understanding complex human diseases.
  • The HapMap project aims to map LD patterns across the human genome.
  • Pilot studies have identified "haplotype blocks" in various genomic regions.

Purpose of the Study:

  • To characterize patterns of linkage disequilibrium (LD) in the human genome.
  • To investigate the implications of LD patterns for identifying genes influencing complex diseases.
  • To address practical challenges in genetic studies, including marker selection and statistical modeling.

Main Methods:

  • Utilizing data from the HapMap pilot study.
  • Analyzing genome-wide patterns of genetic variation.

Related Experiment Videos

  • Employing statistical modeling to define haplotype block structures.

    • Main Results:

    • Identification of "haplotype blocks" in 51 distinct genomic regions.
    • Demonstration of localized patterns of linkage disequilibrium across the genome.
    • Highlighting the influence of statistical methods on the observed block structures.

    Conclusions:

    • Haplotype blocks provide insights into recombination and genetic variation.
    • Understanding LD is essential for discovering genes associated with complex diseases.
    • New analytical methods are needed to identify rare variants influencing disease.
    • Genotyping strategies must be carefully considered for common disease studies.