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Chromosomal mutations in human populations.

H J Evans

    Cytogenetics and Cell Genetics
    |January 1, 1982
    PubMed
    Summary

    Chromosomal mutations in human populations are linked to congenital diseases and cancer. Monitoring aberration frequencies in lymphocytes can assess population exposure to mutagens like radiation and chemicals.

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    Area of Science:

    • Human genetics
    • Cytogenetics
    • Environmental health

    Background:

    • Chromosomal mutations occur in germ cells, causing heritable diseases, or in somatic cells, contributing to neoplastic transformation.
    • Somatic chromosome mutations (aberrations) are detectable in peripheral blood lymphocytes.
    • Aberration frequency can indicate population exposure to mutagens.

    Purpose of the Study:

    • To present data on the prevalence of somatic chromosome aberrations in normal populations.
    • To demonstrate the utility of aberration frequency in monitoring population exposure to mutagens.
    • To describe an alternative method for assessing chromosome damage using 8-azaguanine resistant lymphocytes.

    Main Methods:

    • Analysis of somatic chromosome mutations (aberrations) in peripheral blood lymphocytes.
    • Studies on populations exposed to ionizing radiation and chemical mutagens (e.g., cigarette smoke).
    • Assessment of 8-azaguanine resistant lymphocyte incidence following in vitro exposure to X-rays or chemical mutagens.

    Main Results:

    • Data on the prevalence of aberrations in normal populations are presented.
    • Increased aberration incidence was observed in individuals exposed to mutagens.
    • The frequency of 8-azaguanine resistant lymphocytes increases with age and in a dose-dependent manner upon exposure to mutagens.

    Conclusions:

    • Somatic chromosome aberration frequency serves as a valuable biomarker for monitoring population exposure to environmental mutagens.
    • The 8-azaguanine resistance assay provides an alternative cytogenetical method for assessing chromosome damage.
    • These methods contribute to understanding the impact of environmental factors on human genetic integrity.

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