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Correlation between a DNA restriction fragment length polymorphism and C4A6 protein

A Palsdottir, S J Cross, J H Edwards

    Nature
    |December 8, 1983
    PubMed

    Insights

    The fourth component of complement (C4) gene polymorphism, identified using DNA analysis, offers a precise method for studying disease susceptibility. This genetic marker is valuable for clinical investigations into autoimmune diseases.

    Area of Science:

    • Immunogenetics
    • Molecular Biology
    • Human Genetics

    Background:

    • The fourth component of complement (C4) is encoded by C4A and C4B loci within the human major histocompatibility region (MHC) on chromosome 6.
    • C4 genes exhibit extensive polymorphism with over 30 alleles, including null variants, making them useful for disease association studies.
    • Previous studies suggest links between C4 phenotypes and autoimmune disorders such as systemic lupus erythematosus and type I diabetes.

    Purpose of the Study:

    • To investigate the correlation between C4 gene polymorphism and C4 protein phenotypes using molecular techniques.
    • To establish a precise method for analyzing C4 polymorphism in genomic DNA.

    Main Methods:

    • Genomic DNA from individuals with known C4 protein types was analyzed using Southern blotting with a C4-specific probe.
    • Restriction fragment length polymorphism (RFLP) analysis was performed using BglII restriction enzyme.

    Main Results:

    • Specific BglII restriction fragments of 10.7 kb and 3.8 kb were consistently identified in individuals expressing the C4A6 allele.
    • These specific fragments were absent in individuals lacking the C4A6 allele, demonstrating a clear correlation.
    • This molecular approach provides a precise basis for C4 polymorphism analysis.

    Conclusions:

    • Southern blotting with C4-specific probes and RFLP analysis effectively identifies C4 gene polymorphism.
    • This technique offers a precise and valuable tool for analyzing C4 polymorphism, particularly in the context of autoimmune disease research.

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