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Formal Genetics of Humans: Linkage Analysis and Gene Clusters

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Human Genetics

Abstract

Genes are located in a linear fashion on the chromosomes. This has the logical consequence that genes located on the same chromosome are transmitted together, i. e., that their segregation is not independent. On the other hand, it is know from cytogenetics that chiasmata are formed during the first meiotic division, and that certain chromosome segments are exchanged between homologous chromosomes (crossing over; see Sect. 2.1.2.4). Hence, even genes located on the same chromosome are not always transmitted together; the probability of transmission of two linked genes depends on the distance between them and on the frequency with which they are separated by crossing over. If located on a fairly long chromosome, and if the distance is large enough that numerous crossing over events occur between them, genes located on the same chromosome may even seem to segregate independently. Such genes are syntenic but not linked. It was the great achievement of Morgan and his school in the first two decades of the twentieth century to exploit linkage for localizing genes relative to each other on chromosomes and developing gene maps in the fruit fly Drosophila melanogaster.

If “to take a possible example, an equally close linkage” (as between the genes for hemophilia and color blindness) “were found between the genes for blood group” and that “determining Huntington’s chorea, we should be able, in many cases, to predict which children of an affected person would develop this disease and to advise on the desirability or otherwise of their marriage.”

J. B. S. Haldane and J. Bell (1937) The linkage between the genes for colour-blindness and haemophilia in man. Proc. Roy. Soc. B 123, 119.

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Authors and Affiliations

  1. Institut für Humangenetik und Anthropologie, Im Neuenheimer Feld 328, 69120, Heidelberg, Germany

    Emeritus Professor Dr. Dr. h.c. Friedrich Vogel

  2. Division of Medical Genetics, School of Medicine, University of Washington, 98195, Seattle, WA, USA

    Arno G. Motulsky M.D. (Emeritus Professor of Medicine and Genetics)

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  1. Emeritus Professor Dr. Dr. h.c. Friedrich Vogel
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Vogel, F., Motulsky, A.G. (1997). Formal Genetics of Humans: Linkage Analysis and Gene Clusters. In: Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03356-2_6

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  • DOI: https://doi.org/10.1007/978-3-662-03356-2_6

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