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Alpha 1 antitrypsin M1: a new common genetically determined variant

F Kueppers

    American Journal of Human Genetics
    |July 1, 1976
    PubMed

    Insights

    A novel alpha 1 antitrypsin variant (M1) was identified using isoelectric focusing. This common genetic variant, found in 9% of U.S. whites, is detectable when compared to the standard M type.

    Area of Science:

    • Biochemistry
    • Human Genetics

    Background:

    • Alpha 1 antitrypsin (AAT) is a crucial serum protein.
    • Genetic variations in AAT can impact health and disease susceptibility.

    Purpose of the Study:

    • To report the discovery of a new common variant of alpha 1 antitrypsin, designated M1.
    • To characterize the detection method and prevalence of the M1 variant.

    Main Methods:

    • Serum protein analysis using isoelectric focusing (IEF) in a pH gradient (3.5-5.0) on polyacrylamide gels.
    • Comparison with the common alpha 1 antitrypsin M type.
    • Evaluation of detection limits and cross-reactivity with starch gel electrophoresis.

    Main Results:

    • A new common variant, alpha 1 antitrypsin M1, was identified.
    • The M1 variant is distinguishable from the M type only when both are present in the same serum sample.
    • The M1 variant is not detectable by starch gel electrophoresis.
    • The gene frequency of the M1 variant in a sample of United States whites was found to be 0.09 (9%).

    Conclusions:

    • Isoelectric focusing is effective for identifying the novel alpha 1 antitrypsin M1 variant.
    • The M1 variant represents a common genetic polymorphism in populations of European descent.
    • Further research may be needed to understand the clinical significance of the AAT M1 variant.

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