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C3 variants in Japanese.

H Nishimukai, H Kitamura, Y Sano

    Human Heredity
    |January 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    Seven complement factor 3 (C3) phenotypes were identified in the Japanese population using high-voltage agarose gel electrophoresis. All identified C3 variants exhibited normal serum hemolytic activity, suggesting no immediate clinical implications.

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    Area of Science:

    • Genetics
    • Immunology
    • Biochemistry

    Background:

    • Complement factor 3 (C3) is a crucial protein in the innate immune system.
    • Genetic variations in C3 can influence immune response and susceptibility to diseases.
    • Understanding C3 allele frequencies is important for population genetics and clinical studies.

    Purpose of the Study:

    • To identify and characterize the phenotypes of complement factor 3 (C3) in the Japanese population.
    • To determine the allele frequencies of identified C3 variants.
    • To assess the functional activity of C3 variants in serum.

    Main Methods:

    • High-voltage agarose gel electrophoresis was employed to separate and identify C3 phenotypes.
    • Allele frequencies were calculated based on the observed phenotypes.

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  • Complement component 50 (CH50) assays, C3/C3c protein concentrations, and C3 hemolytic activities were measured in fresh sera.

    • Main Results:

    • Seven distinct C3 phenotypes were identified in the Japanese population.
    • The allele frequencies for C3*S, C3*S025, C3*S02, C3*F, C3*F06, C3*F065, and C3*F08 were determined.
    • All variant C3 phenotypes showed normal CH50, C3/C3c protein levels, and hemolytic activities.

    Conclusions:

    • The study successfully characterized C3 phenotypes and their allele frequencies in the Japanese population.
    • The identified C3 variants appear to be functionally normal, as indicated by preserved hemolytic activities.
    • These findings contribute to the understanding of C3 genetic diversity and its functional implications in this population.