Investigation of Genetic Linkage in Human Families

  • Ray White
  • Jean-Marc Lalouel
Part of the Advances in Human Genetics book series (AHUG, volume 16)


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.


Genetic Linkage Duchenne Muscular Dystrophy Synaptonemal Complex House Mouse Duchenne Muscular Dystrophy 
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Copyright information

© Springer Science+Business Media New York 1987

Authors and Affiliations

  • Ray White
    • 1
    • 2
  • Jean-Marc Lalouel
    • 1
    • 2
  1. 1.Howard Hughes Medical Institute and Department of Human GeneticsUniversity of Utah School of MedicineSalt Lake CityUSA
  2. 2.Howard Hughes Medical Institute and Department of Human GeneticsUniversity of Utah Medical CenterSalt Lake CityUSA

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