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Related Experiment Videos

Genetic polymorphism of human plasminogen

D Raum, D Marcus, C A Alper

    American Journal of Human Genetics
    |September 1, 1980
    PubMed
    Summary

    A common genetic polymorphism in human plasminogen was identified using isoelectric focusing. This study details the PLGN*A and PLGN*B alleles and their frequencies across different populations, confirming Mendelian inheritance.

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    Area of Science:

    • Biochemistry
    • Human Genetics
    • Molecular Biology

    Background:

    • Human plasminogen is crucial for fibrinolysis.
    • Understanding genetic variations in plasminogen is important for thrombosis and bleeding disorder research.
    • Previous methods for plasminogen polymorphism analysis were limited.

    Purpose of the Study:

    • To delineate a common genetic polymorphism in human plasminogen.
    • To characterize the alleles and their frequencies in diverse populations.
    • To investigate the inheritance pattern and fetal expression of plasminogen.

    Main Methods:

    • Isoelectric focusing (IEF) of neuraminidase-treated serum/plasma.
    • Immunofixation or caseinolytic overlay after urokinase activation.
    • Analysis of genetic polymorphism in human plasminogen.

    Main Results:

    • A common genetic polymorphism in human plasminogen was identified.
    • Two major alleles, PLGN*A and PLGN*B, were observed with varying frequencies in White, Oriental, and Black populations.
    • Rare alleles were also detected, and phenotype distribution adhered to Hardy-Weinberg equilibrium.

    Conclusions:

    • Human plasminogen inheritance is autosomal codominant, following Mendelian expectations.
    • Fetal synthesis of plasminogen occurs, but there is no transplacental passage.
    • The identified polymorphism provides a basis for further genetic and clinical studies.

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