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Linkage Analysis for Monogenic Traits

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Vogel and Motulsky's Human Genetics

Abstract

Linkage analysis, that is the observation of cosegregation of adjacent genetic markers or traits, is the principal means of constructing genetic maps, and locating genes that cause disease, or genetic traits. Although these methods have been partially supplanted by newer methods such as whole genome sequencing, linkage analysis still has considerable utility. The history of the method and the mathematical basis of linkage analysis are presented as well as specific applications to human genetics. Gene clusters consist of groups of adjacent genes that exist largely though mechanisms of gene duplication. In addition there exist clusters of genes that have related function, the best studied of which is the Major Histocompatibility Complex. The structure and evolutionary history of these clusters provides insight into the history of mammalian genomes.

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  1. National Cancer Institute, MD, Frederick, 21702, USA

    Michael Dean

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  1. Arno G. Motulsky
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  1. Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, Graz, 8010, Austria

    Michael R. Speicher

  2. Departments of Medicine (Division of Medical Genetics) and Genome Sciences, University of Washington School of Medicine, 1705 N.E. Pacific St., 355065, Seattle, WA, 98195-5065, USA

    Arno G. Motulsky (Professor Emeritus) (Professor Emeritus)

  3. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, Geneva, 1211, Switzerland

    Stylianos E. Antonarakis

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Motulsky, A.G., Dean, M. (2010). Linkage Analysis for Monogenic Traits. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_7

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