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Plasma cholinesterase polymorphism in Down's syndrome.

M Whittaker, M Berry

    Human Heredity
    |January 1, 1977
    PubMed
    Summary
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    Plasma cholinesterase variants were studied in Down's syndrome patients. A significant increase in fluoride-resistant genes and decrease in atypical genes were observed, potentially aiding genetic counseling.

    Area of Science:

    • Biochemistry
    • Human Genetics
    • Clinical Diagnostics

    Background:

    • Plasma cholinesterase (pseudocholinesterase) is crucial for neurotransmitter regulation.
    • Genetic variants of plasma cholinesterase can influence enzyme activity and drug metabolism.
    • Down's syndrome is associated with various genetic and biochemical alterations.

    Purpose of the Study:

    • To investigate the frequency of plasma cholinesterase variants in individuals with Down's syndrome.
    • To compare these frequencies with a control population.
    • To assess the potential diagnostic utility of cholinesterase variants in Down's syndrome.

    Main Methods:

    • Electrophoretic analysis of plasma cholinesterase phenotypes.
    • Comparison of variant frequencies between 80 Down's syndrome patients and a control group.

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  • Statistical analysis to determine significant differences.

    • Main Results:

    • No changes in the frequency of the known C5+ variant or novel variants were detected.
    • A highly significant increase in the frequency of the fluoride-resistant gene was observed in Down's syndrome individuals.
    • A significant decrease in the frequency of the atypical gene was found in the Down's syndrome cohort.

    Conclusions:

    • The distribution of plasma cholinesterase variants differs significantly between individuals with Down's syndrome and the general population.
    • Altered frequencies of fluoride-resistant and atypical genes suggest a potential link between cholinesterase phenotypes and Down's syndrome.
    • These findings may offer a valuable diagnostic marker for genetic counseling in cases of intellectual disability.