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Polymorphism of human alpha fucosidase.

B M Turner, V S Turner, N G Beratis

    American Journal of Human Genetics
    |September 1, 1975
    PubMed
    Summary
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    Researchers identified a common human alpha fucosidase polymorphism using isoelectric focusing. Family studies revealed two autosomal codominant alleles, Fu1 and Fu2, influencing phenotypes and varying in frequency between white and black populations.

    Area of Science:

    • Biochemistry
    • Human Genetics
    • Population Genetics

    Background:

    • Alpha fucosidase is an enzyme involved in glycoprotein catabolism.
    • Genetic variations in enzymes can impact human health and population diversity.
    • Isoelectric focusing is a technique used to separate proteins based on their isoelectric point.

    Purpose of the Study:

    • To detect and characterize common polymorphisms of human alpha fucosidase.
    • To investigate the genetic basis of observed alpha fucosidase phenotypes.
    • To determine the allele frequencies of alpha fucosidase in different ethnic groups.

    Main Methods:

    • Isoelectric focusing on thin layer acrylamide gel was employed to detect enzyme variants.
    • Family studies were conducted to establish the inheritance patterns of alpha fucosidase phenotypes.

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  • Allele frequencies were calculated for white and black populations in New York.

    • Main Results:

    • A common polymorphism in human alpha fucosidase was identified.
    • Three phenotypes (Fu 1, Fu 2, Fu 2-1) were observed, corresponding to homozygosity or heterozygosity for two codominant alleles (Fu1 and Fu2).
    • Significant differences in allele frequencies were found between white (.753 Fu1, .247 Fu2) and black (.926 Fu1, .074 Fu2) populations.

    Conclusions:

    • The human alpha fucosidase polymorphism is genetically determined by two autosomal codominant alleles.
    • Allele frequencies of alpha fucosidase exhibit ethnic variation.
    • This genetic polymorphism provides a marker for population genetic studies.