Model‐based Linkage Analysis

Marion Dawn Teare, University of Sheffield, Sheffield, UK

Published online: July 2006

DOI: 10.1038/npg.els.0005401

Model-based linkage analysis is the analysis of the cosegregation of genetic loci in pedigrees. The most common form of linkage analysis uses pedigrees selected due to the presence of individuals affected by a disease that is assumed or known to have a major genetic component. Genetic markers are then examined to identify loci that appear to be cotransmitted with the predisposing disease locus.

Keywords: lod scores; parametric linkage analysis; genetic heterogeneity; genetic linkage analysis

Figure 1. Pedigree segregating a known recessive disease (see text for explanation). Open circles: unaffected females; open squares: unaffected males; full circles: affected females; full squares: affected males; D: disease-causing allele at disease locus; d: wild-type allele at disease locus. A, B, C and D are four distinct alleles at the genetic marker. The meiotic phase is known.
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 References
    Boehnke M (1986) Estimating the power of a proposed linkage study – a practical computer-simulation approach. American Journal of Human Genetics 39: 513–527.
    Claus EB, Risch N and Thompson WD (1991) Genetic-analysis of breast-cancer in the cancer and steroid-hormone study. American Journal of Human Genetics 48(2): 232–242.
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    proceedings Lathrop GM, Lalouel JM, Julier C and Ott J (1984) Strategies for multilocus linkage analysis in humans. Proceedings of the National Academy of Sciences of the United States of America 81: 3443–3446.
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    Teare MD, Rohde K and Santibanez Koref MF (1994) The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families. Journal of Medical Genetics 31(6): 448–452.
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 Further Reading
    book Terwilliger JD and Ott J (1994) Handbook of Human Genetic Linkage. Baltimore, MD: Johns Hopkins University Press.
 Web Links
    ePath http://linkage.rockefeller.edu Rockefeller University: Web resources of genetic linkage analysis. This website contains an up-to-date list of available genetic analysis software packages and links to download instructions

Related Sub-Topics:

Linkage Analysis | Gene Mapping by Disease Association | Genetic Models
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Article Title: Model‐based Linkage Analysis
 
How to Cite close
Teare, Marion Dawn(Jul 2006) Model‐based Linkage Analysis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005401]