Abstract
The major findings of classical genetics were worked out between 1900 and 1920. Although those interested in human heredity knew of these findings, the techniques used in fruit flies or maize were not possible for humans, and thus, there was a delay of several decades for most of these findings to be demonstrated in humans. What turned out to be a surprise was the way human (and other mammals) differed in their mechanisms and outcomes. For sex determination, the Y was male determining in humans but not in fruit flies. For nondisjunction, the sexual outcomes differed for conditions like XXY (fertile females in fruit flies but Klinefelter sterile males in humans). This was also true for several other classical genetic applications in humans which illustrated the difficulty of finding ways to replicate laboratory findings in humans. Victor McKusick assimilated these findings in his classic publication, Mendelian Inheritance in Man, the most valuable sourcebook for the literature and commentary on any human inherited disorder. The molecularization of genetics after 1990 made it easier for mapping, the analysis of multiple allelic series, and identifying lesions in mutant genes, but major differences still exist between human and medical genetics when these are compared to fruit fly or maize genetics.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
For a history of classical genetics, see Carlson EA (2007) Mendel’s legacy: the origin of classical genetics. Cold Spring Harbor laboratory Press, Cold Spring Harbor. For a history of Bateson’s involvement in the dispute with biometricians, see Cock A, Forsdyke DR (2008) Treasure your exceptions: the science and life of William Bateson. Springer, New York
For histories of human and medical genetics, see Dronamraju K (1989) The foundations of human genetics. Charles C Thomas, Springfield. Harper PS (2008) A short history of medical genetics. Oxford University Press, New York
For a history of degeneracy theory and its relation to eugenics, see Carlson EA (2001) The unfit: a history of a bad idea. Cold Spring Harbor Laboratory Press, Cold Spring Harbor
For a history of molecular genetics see Olby R (1974) The path to the double helix: the discovery of DNA. University of Washington Press, Seattle. Judson HF (1979) The eighth day of creation: makers of the revolution in biology. Jonathan Cape, London (now Random House, NY)
For a detailed history of the discovery of sex chromosomes see Carlson op. cit., 2007 Chap 7 The sex chromosomes, pp 79–98
Bell J, Haldane JBS (1937) The linkage between the genes for colour-blindness and hemophilia in man. Proc Roy Soc B 123:119–150. Haldane JBS, Smith CAS (1947) A new estimate of the linkage between the genes for colour-blindness and hemophilia in man. Ann Eugenic 14: 10–31
Kottler MJ (1974) From 48 to 46: cytological technique, preconception, and the counting of human chromosomes. Bull Hist Med 48:467–471
Collins FS (2010) The language of life: DNA and the revolution in personalized medicine. Harper Collins, New York
Gates RR (1909) The stature of chromosomes of Oenothera gigas, De Vries. Archiv für Zellforschung 3:525–552. Bridges CB (1916) Nondisjunction as proof of the chromosome theory of heredity. Genetics 1:1–53; 107–163
For a pre-molecular history of the human X and Y chromosomes, see Mittwoch U (1967) The sex chromosomes. Academic Press, New York
Barr ML, Bertram EG (1949) A morphological distinction between neurons of the male and female and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 163:676–677. Also, see the review by Lyon M. The William Allen White Memorial Award Address. X-chromosome inactivation and the location and expression of X-linked genes. Am J Hum Genet 42:8–16
Carlson EA (1958) The bearing of a complex-locus on the interpretation of the Rh series. Am J Human Genet 10:465–473. Race RR, Sanger (1954) Blood groups in man. Charles Thomas, Illinois. Wiener AS (1954) Rh-Hr blood types. Grune and Stratton, New York. Also, Mouro I, Colin Y, Cherif-Zahar B, Cartron JP, Le Van Kim C (1993) Molecular genetic basis of the human Rhesus blood group. Nat Genet 5:62–65
Carlson EA, Desnick RJ (1979) Mutational mosaicism and genetic counseling in retinoblastoma. Am J Med Genet 4:365–381. Also, Sippel KC, Faioli RE, Smith GD, Schalkoff ME, Sutherland J, Allie BL, Dryja TP (1998) Frequency of somatic and germ line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet 62:616–619
Knudson A (1971) Mutation and cancer: statistical studies of retinoblastoma. Proc Natl Acad Sci 68:820–823
McKusick V (1966–1998) Mendelian inheritance in man, 12 editions. Johns Hopkins University Press, Baltimore. It seemed more feasible after 1998 to abandon the costly printed version and switch to a continuously updated on-line version. Thus MIM became OMIM. For each entry disorder there is a date of last revision
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Carlson, E.A. (2012). The Assimilation of Classical Genetics into Human Genetics. In: Dronamraju, K., Francomano, C. (eds) Victor McKusick and the History of Medical Genetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1677-7_11
Download citation
DOI: https://doi.org/10.1007/978-1-4614-1677-7_11
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-1676-0
Online ISBN: 978-1-4614-1677-7
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)