Standard Article

Haplotype mapping

Part 2. Genomics

2.2. Mapping

Specialist Review

  1. Alexandre Montpetit1,2,
  2. Fanny Chagnon1,
  3. Thomas J. Hudson1,2

Published Online: 15 OCT 2004

DOI: 10.1002/047001153X.g202204

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Montpetit, A., Chagnon, F. and Hudson, T. J. 2004. Haplotype mapping. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 2:2.2:12.

Author Information

  1. 1

    McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada

  2. 2

    McGill University, Montreal, Canada

Publication History

  1. Published Online: 15 OCT 2004


Common human diseases such as asthma, diabetes, schizophrenia, and cancer are a major burden to industrialized nations in terms of clinical, social, and economic impacts. Understanding the contribution of genetic variants to the etiology of common diseases may bring improvements in preventive strategies, diagnostic tools, and therapies. To date, more than 1200 genes involved in the progression of simple rare Mendelian diseases have been identified. However, for common diseases, factors such as genetic heterogeneity, incomplete penetrance, gene-gene, and gene-environment interactions have hindered family based positional cloning strategies used for disease gene identification. Consequently, the detection of genetic variants leading to common diseases is still a major challenge for the biomedical community in 2004, despite the knowledge of the complete sequence of the human genome. Refinements to the existing gene-mapping methods are thus necessary to overcome the existing hurdles. In this review, we will discuss the advantages and limitations of haplotype mapping in the search for common disease-causing genes.


  • association;
  • linkage disequilibrium;
  • SNP;
  • haplotypes;
  • HapMap;
  • common diseases