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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
    This summary is machine-generated.

    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.

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    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.
    • 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.