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  • Print publication year: 1993
  • Online publication date: March 2008

III.1 - Genetic Disease

from Part III - Medical Specialties and Disease Prevention
Summary

The idea that a particular physical feature, either normal or abnormal, is hereditary is probably as old as our species itself. However, as has been noted by many other writers, tracing the origins of an idea is a formidable, if not impossible, task. Clearly, the concept of “like begets like” found a practical expression in the early domestication of animals; breeding stock was chosen on the basis of favorable traits. The first tangible evidence that human beings had at least a glimmer of the notion of heredity can be found in the domestication of the dog some 10,000 years ago. Yet it is only in the past 100 years that we have begun to understand the workings of heredity.

This essay traces the development of the concept of heredity and, in particular, shows how that development has shed light on the host of hereditary and genetic diseases we have come to recognize in humans. It begins with a brief discussion of some basic concepts and terms, which is followed by an outline of the heuristic model of genetic transmission that has come to be the standard of modern medical genetics. Once this groundwork is in place, the history of the study of human genetic disease is developed from the earliest records, through the birth of medical genetics, to the molecular era. Naturally, a detailed narrative of this history would require several volumes. Therefore, some events and ideas have been omitted or treated only cursorily.

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The Cambridge World History of Human Disease
  • Online ISBN: 9781139053518
  • Book DOI: https://doi.org/10.1017/CHOL9780521332866
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AllenG. E. 1978. Thomas Hunt Morgan: The man and his science. Princeton, N. J..
AndersonW. F. 1984. Prospects for human gene therapy. Science 226.
BallantyneJ. W. 1902. Antenatal pathology and hygiene. Edinburgh.
BarkerD. , et al. 1987. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of Chromosome 17. Science 236.
BatesonWilliam , and E. R. Saunders . 1902. Experimental studies in the physiology of heredity: Report to Evolution Committee of the Royal Society, No. 1. London.
BeadleG. W. 1945. Biochemical genetics. Chemical Review 37.
BeetE. A. 1949. The genetics of the sickle-cell trait in a Bantu tribe. Annals of Eugenics 14.
BennettRhodes J. H.F. A., and Robson H. N. 1959. A possible genetic basis for kuru. American Journal of Human Genetics 11.
BodmerW. E , et al. 1987. Localization of the gene for familial adenoma tous polyposis on chromosome 5. Nature 328.
BotsteinD. , et al. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphism. American Journal of Human Genetics 32.
BrewerG. J. 1985. Detours on the road to successful treatment of sickle cell anemia. In Genetic perspectives in biology and medicine, ed. Garber E. D.. Chicago.
CarlsonE. A. 1966. The gene: A critical history. Philadelphia.
CarlsonE. A. 1981. Genes, radiation, and society: The life and work of H. J. Muller. Ithaca, N.Y..
CaskeyC. T. 1987. Disease diagnosis by recombinant DNA methods. Science 236.
Cavenee W. K. , et al. 1985. Genetic origin of mutations predisposing to retinoblas toma. Science 228.
ComingsD. E. , et al. 1984. Detection of a major gene for Gilles de la Tourette’s syndrome. American Journal of Human Genetics 36.
DaviesK. E. , et al. 1983. Linkage analysis of two cloned sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Research 11.
DiggsL. W. , Ahmann C. F., and Bibb J.. 1933. The incidence and significance of the sickle cell trait. Annals of Internal Medicine 7.
Donis-Keller , et al. 1987. A genetic linkage map of the human genome. Cell 51.
DownJ. L. H. 1867. Observations on an ethnic classification of idiots. Journal of Mental Science 13.
EgelandJ. A. , et al. 1987. Bipolar affective disorder linked to DNA markers on chromosome 11. Nature 325.
EmmelV. E. 1917. A study of the erythrocytes in a case of severe anemia with elongated and sickle-shaped red blood corpuscles. Archives of Internal Medicine 20.
Fraser–RobertsJ. A ., and Pembrey M. E.. 1978. An introduction to medical genetics, 7th edition. Oxford.
FriendS. H. , et al. 1986. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323.
GarrodA. E. 1899. Contribution to the study of alkaptonuria. Proceedings of the Royal Medical and Chirurgical Society 11.
GarrodA. E. 1901. About alkaptonuria. Lancet 2.
GarrodA. E. 1902. The incidence of alkaptonuria: A study in chemical individuality. Lancet 2.
GarrodA. E. 1908. The Croonian Lectures on inborn errors of metabolism. Lancet 2.
GarrodA. E. 1928. The lessons of rare maladies. Lancet 1.
GlassB. 1947. Maupertius and the beginnings of genetics. Quarterly Review of Biology 22.
GlenisterT. W. 1964. Fantasies, facts, and foetuses. Medical History 8.
GoldgaberD. , et al. 1987. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer’s disease. Science 235.
GronerY. , et al. 1986. Molecular genetics of Down’s syndrome: Overexpression of transfected human Cu/Znsuperoxide dismutase gene and consequent physiological changes. Cold Spring Harbor Symposium on Quantitative Biology 51.
GusellaJ. F. , et al. 1983. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306.
HarrisH. 1963. Introduction: Garrod’s inborn errors of metabolism. London.
HellerP. 1969. Hemoglobin M: An early chapter in the saga of molecular pathology. Annals of Internal Medicine 70.
HerrickJ. B. 1910. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Archives of Internal Medicine 6.
HuckJ. G. 1923. Sickle cell anemia. Johns Hopkins Hospital Bulletin 34.
IngramV. M. 1956. A specific chemical difference between the globins of normal human and sickle-cell anemia hemoglobin. Nature 178.
IngramV. M. 1959. Abnormal human hemoglobins: III. The chemical difference between normal and sickle cell hemoglobins. Biochemical Biophysical Acta 36.
JeffreysA. J. , Wilson V., and Thein S. L.. 1985. Hypervariable “minisatellite” regions in human DNA. Nature 314.
JeffreysA. J. , et al. 1986. DNA “fingerprints” and segregation analysis of multiple markers in human pedigrees. American Journal of Human Genetics 39.
KanY. W. , and Dozy A. M.. 1978. Polymorphism of the DNA sequence adjacent to the beta globin structural gene: Relationship to sickle mutation. Proceedings of the National Academy of Sciences 75.
LawnR. M. , et al. 1978. The isolation and characterization of linked delta and beta-globin genes from a cloned library of human DNA. Cell 15.
LejeuneJ., M. Gautier , and Turpin R.. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. Comptes Rendus 248.
LiaoY.-C. J. , et al. 1986. Human prion protein cDNA: Molecular cloning, chromosome mapping, and biological implications. Science 233.
LindenbaumS. 1979. Kuru sorcery. Palo Alto, Calif..
McKusickV. A. 1986. Mendelian inheritance in man, 7th edition. Baltimore.
Monaco A. , et al. 1986. Isolation of the candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323.
MorganT. H. 1914. The mechanism of heredity as indicated by the inheritance of linked characters. Popular Science Monthly, January.
MortonN. E. 1982. Outline of genetic epidemiology. Basel.
MortonN. E. , and Chung C. S., eds. 1978. Genetic epidemiology. New York.
MotulskyA. E. 1959. Joseph Adams (1756–1818): A forgotten founder of medical genetics. Archives of Internal Medicine 104.
NakamuraY. , et al. 1987. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235.
NeelJ. V. 1949. The inheritance of sickle cell anemia. Science 110.
NeelJ. V. , and Schull W. J.. 1954. Human heredity. Chicago.
O’BrienS. J. , ed. 1987. Genetic maps, 1987: A compilation of linkage and restriction maps of genetically studied organisms. Cold Spring Harbor, N.Y..
OlbyR. C. 1966. Origins of Mendelism. New York.
PagetJ. 1882. The “Bradshawe” lecture on some rare and new diseases. Lancet 2.
Painter T. S. 1923. Studies in mammalian spermatogenesis: II. The spermatogenesis of man. Journal Experimental Zoology 37.
PaulingL. , et al. 1949. Sickle cell anemia, a molecular disease. Science 110.
PenroseL. S. 1939. Maternal age, order of birth and developmental abnormalities. Journal of Mental Science 85.
PetersJ. A. , ed. 1959. Classic papers in genetics. Englewood Cliffs, N.J..
PlominR. , DeFries J. C., and McClearn G. E.. 1980. Behavior genetics: A primer. San Francisco.
PrusinerS. B. 1982. Novel proteinaceous infectious particles cause scrapie. Science 216.
PrusinerS. B. , et al. 1984. Purification and structural studies of a major scrapie prion protein. Cell 38.
ReedersS. T. , et al. 1985. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317.
RoperA. G. 1913. Ancient eugenics. Oxford.
Royer-PokoraB. , et al. 1986. Cloning the gene for an inherited human disorder: Chronic granulomatous disease on the basis of its chromosomal location. Nature 322.
ShowsT. , Sakaguchi A. Y., and Naylor S. L.. 1982. Mapping the human genome, cloned genes, DNA polymorphisms, and inherited diseases. In Advances in human genetics, Vol. 12, ed. Harris H. and Hirschern K.. New York.
SparkesR. S. , et al. 1986. Assignment of the human and mouse prion protein genes to homologous chromosomes. Proceedings of the National Academy of Sciences 83.
SternC. , and Sherwood E. R., eds. 1966. The origin of genetics: A Mendel source book. San Francisco.
SturtevantA. H. 1913. The linear arrangement of six sexlinked factors in Drosophila, as shown by their mode of association. Journal of Experimental Zoology 14.
SturtevantA. H. 1966. A history of genetics. New York.
TanziR. E. , et al. 1987. Amyloid beta-protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 235.
ThompsonJ. S. , and Thompson M. W.. 1980. Genetics in medicine, 3d edition. Philadelphia.
ThurmanE. 1986. Human chromosomes: Structure, behavior, effects, 2d edition. New York.
TjioJ. H. , and Levan A.. 1956. The chromosome number of man. Hereditas 42.
TsuiL.-C. , et al. 1985. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230.
VogelF. , and Motulsky A. G.. 1979. Human genetics. New York.
WarrenA. C. , Chakravarti A., and Wong C., 1987. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science 237.
WhiteR. L. , ed. 1987. Linkage maps of human chromosomes. Salt Lake City, Utah.
WillardH. , et al. 1985. Report of the committee on human gene mapping by recombinant DNA techniques. Human Gene Mapping 8, Cytogenetic Cell Genetics 40.
WrightS. 1968. Evolution and the genetics of populations, Vol. 1. Chicago.