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The genetic basis of amaurotic family idiocy

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Summary

1. Amaurotic family idiocy, like the juvenile from of Tay-Sachs disease analysed by Sjögren, is determined by a single recessive gene substitution.

2. On this view the expected proportion of amaurotics in fraternities to which they belong calculated from Mendelian theory differs from the observed number in recorded clinical data by an amount less than the standard error of the former.

3. The incidence of consanguineous parentage among amaurotic family idiots is high and accords well with the requirements of the Lenz-Dahlberg formula.

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References

  1. Dahlberg (1930). “Inbreeding in man.”Genetics,25.

  2. Haldane, J. B. S. (1932). “A method for investigating recessive characters in man.”Journ. Gen. 25.

  3. Hogben, Lancelot (1932). “Genetic analysis of familial traits.” Ibid.25, 97.

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  4. Ibid. 25, 211. “Factorial analysis of small families.”Ibid. 26, 75.

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  5. Hogben, Worrall andZieve (1932). “The genetic basis of alcaptonuria.”Proc. Roy. Soc. Edin. 52, 264.

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  6. Roberts, J. A. F. (1932). “Human pathological conditions determined by any one of several genes.”Nature, Oct. 8, 1932.

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Authors and Affiliations

  1. From the Department of Social Biology in the University of London, UK

    David Slome

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  1. David Slome
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Additional information

A synopsis of recorded cases included in this analysis is given in the appendix which follows together with bibliographical references.

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Slome, D. The genetic basis of amaurotic family idiocy. Journ. of Genetics 27, 363–376 (1933). https://doi.org/10.1007/BF02981749

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