Part 2. Genomics
Published Online: 15 OCT 2004
Copyright © 2005 John Wiley & Sons, Ltd
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.
- 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.
- linkage disequilibrium;
- common diseases