Environmental Mutagenesis and Disease in Human Populations

  • Arno G. Motulsky
Part of the Environmental Science Research book series (ESRH, volume 31)


Environmental chemicals can affect the genetic material and cause a variety of different mutations. Mutations in somatic tissues can lead to cancer while germinal mutations can cause various genetic diseases. The impact of germinal nutations on health will depend upon their frequency; their nature (point mutation vs. chromosomal change, dominant vs. recessive); and upon the mechanisms maintaining a given mutation in the population. Mutations causing early prenatal lethality have fewer public health effects than genetic diseases associated with prolonged medical and social problems. Differences between and within species in metabolism of environmental chemicals and in DNA repair make mutational estimates in humans imprecis?. Results on mutation frequency in somatic cells cannot be readily transferred to conclusions regarding germinal mutations until appropriate comparisons have been made. Studies on atom bomb survivors suggest an increased mutational frequency but such results failed to reach conventional statistical significance. Current estimates of the role of induced germinal mutation in human populations have wide confidence limits. An accurate assessment of the potential hazards of environmental human mutagenesis requires better fundamental understanding of human genetics and continued attention to studies on humans and their tissues and fluids. Crash programs on environmental mutagenesis at the expense of other biomedical research appear unwarranted.


Fetal Alcohol Syndrome Human Mutation Environmental Mutagen Pleural Cancer Germinal Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    BEIR (1980)The Effects on Populations of Exposures to Low Levels of Ionizing Radiation, National Academy of Sciences, Washington, D. C.Google Scholar
  2. 2.
    Bloom, A. D. , Ed. (1981)Guidelines for Studies of Human Populations Exposed to Mutagenic and Reproductive Hazards, March of Dimes Birth Defects Foundation, White Plains, New York.Google Scholar
  3. 3.
    Carter, C. O. (1982) Contribution of gene mutations to genetic disease in humans.Progr. Mutation Res. 3: 1 – 38.Google Scholar
  4. 4.
    Doll, R. , and R. Peto (1981)The Causes of Cancer. Quantitative Estimates of Avoidable Risks of Cancer in the United States Today. Oxford University Press, New York.Google Scholar
  5. 5.
    Hook, E. B. , and I. H. Porter (1977) Human population cytogenetics. Comments on racial differences on frequency of chromosome abnormalities, putative clustering of Down’s syndrome, and radiation studies, InPopulation Cytogenetics: Studies in Humans, E. B. Hook, and I. H. Porter, Eds. , Academic Press, New York, pp. 353 – 365.Google Scholar
  6. 6.
    Idle, J. R. , and R. L. Smith (1979) Polymorphisms of oxidation at carbon centers of drugs and their clinical significance.Drug Metab. Rev. 9: 301 – 317.Google Scholar
  7. 7.
    International Commission for Protection Against Environmental Mutagens and Carcinogens (1983) Estimation of genetic risks and increased incidence of genetic disease due to environmental mutagens.Mutation Res. 225: 255 – 291.Google Scholar
  8. 8.
    Motulsky, A.G. (1964) Pharmacogenetics.Progr. Med. Genet. 3: 49 – 74.Google Scholar
  9. 9.
    Motulsky, A. G. (1977) Ecogenetics: Genetic variation in susceptibility to environmental agents,In Human Genetics, Proceedings 5th International Congress of Human Genetics, Mexico City. Excerpta Medica, Amsterdam, pp. 375 – 385.Google Scholar
  10. 10.
    Motulsky, A. G. (1978) Multifactorial inheritance and heritability in pharmacogenetics.Human Genet. Suppl. 1: 7 – 11.Google Scholar
  11. 11.
    Motulsky, A. G. (1982) Genetic approaches to common diseases, InHuman Genetics, Part B: Medical Aspects, B. Bonne-Tamir, Ed. , Alan R. Liss, New York, pp. 89 – 95.Google Scholar
  12. 12.
    Motulsky, A. G. (1982) Interspecies and human genetic variation, problems of risk assessment in chemical mutagenesis and carcinogenesis.Progr. Mutation Res. 3: 75 – 83.Google Scholar
  13. 13.
    Motulsky, A. G. , and J. C. Murray. Current concepts in hemoglobin genetics,In Distribution and Evolution of Hemoglobin and Globin Loci, J. Bowman, Ed. , Elsevier, New York.Google Scholar
  14. 14.
    National Research Council Committee on Chemical Environmental Mutagens (1983)Identifying and Estimating the Genetic Impact of Chemical Mutagens. National Academy Press, Washington, D.C.Google Scholar
  15. 15.
    Neel, J. V. (1981) In quest of better ways to study human mutation rates, InPopulation and Biological Aspects of Human Mutation, E. B. Hook, and I. H. Porter, Eds. , Academic Press, New York, pp. 361 – 375.Google Scholar
  16. 16.
    Neel, J. V. , W. J. Schull, and M. Otake (1982) Current status of genetic follow-up studies in Hiroshima and Nagasaki.Progr. Mutation Res. 3: 39 – 51.Google Scholar
  17. 17.
    Pelkonen, O. , E. A. Sotaniemi, and N. T. Karki (1982) Human metabolic variability in xenobiotic biotransformation: Implications for genotoxicity.Progr. Clin. Biol. Res. 109: 61 – 73.Google Scholar
  18. 18.
    Sarikaranarayanan, K. (1982)Genetic Effects of Ionizing Radiation in Multicellular Eukaryotes and the Assessment of Genetic Radiation Hazards in Man, Elsevier Biomedical Press, Amsterdam.Google Scholar
  19. 19.
    Shepard, T. H. (1982) Detection of human teratogenic agents.J. Pediat. 101: 810 – 815.Google Scholar
  20. 20.
    Silverberg, E. (1983) Cancer statistics, 1983. Ca-A CancerJ. Clin. 33: 9 – 25.CrossRefGoogle Scholar
  21. 21.
    Stamatoyannopoulos, G. , and P. E. Nute (1981) Screening of human erythrocytes for products of somatic mutation: An approach and a critique, InPopulation and Biological Aspects of Human Mutation, E. B. Hook, and I. H. Porter, Eds. , Academic Press, New York, pp. 265 – 273.Google Scholar
  22. 22.
    Vogel, F. , and A. G. Motulsky (1979)Human Genetics. Principles and Practices, Springer-Verlag, Berlin.Google Scholar
  23. 23.
    Weinberg, R. A. (1983) A molecular basis of cancer.Sci. Am. 249: 126 – 144.Google Scholar
  24. 24.
    Yunis, J. J. (1983) The chromosomal basis of human neoplasia.Science221: 227 – 240.Google Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Arno G. Motulsky
    • 1
  1. 1.Departments of Medicine and Genetics, and Center for Inherited DiseasesUniversity of WashingtonSeattleUSA

Personalised recommendations