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Investigation of Genetic Linkage in Human Families

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Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 16))

Abstract

Investigators in human genetics have relied on family studies to identify genetic traits, and the analysis of clusters of clinical symptoms in families has led to the identification of an impressive array of disease entities. In many instances, such genetic inferences have been confirmed by identification of specific molecular defects (Stanbury et al., 1983), clarifying the pathophysiology of inborn errors of metabolism and providing clues to their prevention and therapy. More often, however, our suspicion of genetic involvement rests entirely on the observed pattern of familial distribution of a phenotype. Whether such an inference rests on careful inspection or on elaborate analyses of familial segregations, it lacks specificity: the postulated gene may not exist, and even if it does, phenotypic segregation patterns alone provide no opportunities for its identification.

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Authors and Affiliations

  1. Howard Hughes Medical Institute and Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, 84132, USA

    Ray White & Jean-Marc Lalouel

  2. Howard Hughes Medical Institute and Department of Human Genetics, University of Utah Medical Center, Salt Lake City, Utah, 84132, USA

    Ray White & Jean-Marc Lalouel

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  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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White, R., Lalouel, JM. (1987). Investigation of Genetic Linkage in Human Families. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 16. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0620-8_3

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