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History of Human Genetics pp 265–274Cite as

The First Human Genetic Map 1936

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Abstract

The rediscovery of Mendel’s law of heredity in 1900 fueled breeding studies of plants and animals, which demonstrated the independent segregation of genetic characters during meiosis. The co-segregation of grouped characters suggested to T. H. Morgan that this behaviour paralleled the behaviour of chromosomes during meiotic segregation. Rare crossover events implied a model in which the frequency of such recombination events was correlated with the physical location of genetic elements on specific chromosomes.

Human genetic studies did not progress because there were many human chromosomes in each human cell, and the likelihood of detecting co-segregation of two characters was minimal. The genes for different blood groups appeared to segregate independently and offered an opportunity to assess potential linkage with characters such as eye and hair colour or diseases such as haemophilia and Friedreich’s ataxia. However, research groups in the USA and the UK found no evidence of human genetic linkage before 1935.

Julia Bell and J. B. S. Haldane from the Galton Laboratory in London then studied the segregation of two characters known to be associated with the X chromosome: haemophilia and colour blindness. Their pedigree analysis published in 1936 demonstrated close linkage of the two loci. Haldane then expanded the work to involve several other genetic characters associated with the X chromosome. Recombination frequencies were used to construct a genetic map of the human X chromosome with five defined loci. The concepts developed in this work provided the basis for linkage studies in the decades ahead until the advent of DNA technology.

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Notes

  1. 1.

    Olby 1987.

  2. 2.

    Bateson 1905, Bateson and Gregory 1905.

  3. 3.

    Darbshire 1904.

  4. 4.

    For a general review of linkage studies, see Sturtevant and Beadle 1962, 63–92, and Mayr 1982, 754–777.

  5. 5.

    Punnett 1923 and 1926.

  6. 6.

    Morgan 1911, Dunn 1991, and Morgan 1922.

  7. 7.

    Painter 1923.

  8. 8.

    Levine 1926.

  9. 9.

    Snyder 1929 and 1931.

  10. 10.

    Bernstein 1930 and 1931.

  11. 11.

    Hogben 1932, 89–90.

  12. 12.

    Hogben 1932, 214.

  13. 13.

    Anonymous 1932, 293–294.

  14. 14.

    Hogben 1932, 83–84.

  15. 15.

    Hogben and Pollack 1935.

  16. 16.

    Mazumdar 1992, 239–240.

  17. 17.

    Wiener et al. 1936/37, and Zieve et al. 1936/37.

  18. 18.

    Davenport 1930.

  19. 19.

    Kevles 1985, 202.

  20. 20.

    Harper 2005 and Jones 2004.

  21. 21.

    Rushton 2000 and 2009.

  22. 22.

    Pearson 1909, i.

  23. 23.

    Norton 1975 and Pearson 1938, 5.

  24. 24.

    Porter 2004, 257.

  25. 25.

    Fisher 1934/35, 1.

  26. 26.

    Bell 1934.

  27. 27.

    Bell 1935.

  28. 28.

    Pirie 1966.

  29. 29.

    Bulloch and Fildes 1911.

  30. 30.

    P 647/5: Bulloch to Pearson 1928.

  31. 31.

    Madlener 1928.

  32. 32.

    Anonymous 1937, Bell and Haldane 1936 and 1937a,b.

  33. 33.

    Kevles 1985, 202.

  34. 34.

    Haldane 1936 and 1936/37.

  35. 35.

    Mohr 1951.

  36. 36.

    Renwick and Lawler 1955.

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Authors and Affiliations

  1. Hunterdon Pediatric Associates, Flemington, NJ, USA

    Alan R. Rushton

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  1. Alan R. Rushton
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Correspondence to Alan R. Rushton .

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Editors and Affiliations

  1. Institut für Ethik, Geschichte und Theorie der Medizin, Westfälische Wilhelms-Universität, Münster, Nordrhein-Westfalen, Germany

    Heike I. Petermann

  2. Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom

    Peter S. Harper

  3. Institut für Geschichte der Medizin und Ethik in der Medizin, Charité-Universitätsmedizin, Berlin, Berlin, Germany

    Susanne Doetz

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Rushton, A.R. (2017). The First Human Genetic Map 1936. In: Petermann, H., Harper, P., Doetz, S. (eds) History of Human Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-51783-4_16

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