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Mutation and disease in man

J V Neel

    Canadian Journal of Genetics and Cytology. Journal Canadien De Genetique Et De Cytologie
    |September 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Genetic mutations contribute significantly to human disease burden. New research highlights the impact of protein-level mutations, particularly "null" alleles, on health, potentially exceeding visible abnormalities.

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    Area of Science:

    • Human Genetics
    • Molecular Biology
    • Medical Research

    Background:

    • Estimates suggest a substantial burden of genetic diseases in liveborn infants.
    • Previous research focused on chromosomal and point mutations.
    • Advancements enable studying mutations at the protein level.

    Purpose of the Study:

    • To review the burden of genetic disease caused by mutation pressure.
    • To evaluate the impact of protein-level mutations, including "null" alleles, on human health.
    • To estimate the frequency and health consequences of mutations affecting protein function.

    Main Methods:

    • Review of existing literature and estimates on genetic disease burden.
    • Analysis of mutation rates for electrophoretic variants in proteins.

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  • Calculation of potential health impacts from "null" mutations based on mutation rates and protein functions.

    • Main Results:

    • Direct estimates identify approximately 370 per 100,000 infants with mutation-related defects.
    • Mutation rates for electrophoretic protein variants are estimated at 1.6 x 10^-5/locus/generation in Amerindians.
    • A conservative estimate suggests "null" mutations occur at 2.0 x 10^-5/locus/generation, potentially impacting thousands of proteins.

    Conclusions:

    • The impact of "null" mutations on health may be underestimated and could exceed that of gross phenotypic abnormalities.
    • Understanding protein-level mutations is crucial for a comprehensive view of genetic disease burden.
    • Many conceptuses with homozygous "null" mutations may be lost prenatally, affecting clinical observation.