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June 14, 1965

Genetic Control of the Quantitative Activity of a Serum Enzyme in Man

Author Affiliations

From the Department of Medicine, Hartford Hospital; Chronic Disease Control Section, Connecticut State Department of Health; and the Connecticut Twin Registry, Hartford.

JAMA. 1965;192(11):1007-1009. doi:10.1001/jama.1965.03080240077028

THE GENETIC CONTROL of the quantitative activity of a serum enzyme was first suggested by Augustinsson and Olsson with serum arylesterase (aryl ester hydrolase [International Union of Biochemistry] )1 in Swedish Landrace swine.2 However, the authors are unaware of a report of hereditary control of the quantitative activity of a serum enzyme in man although several examples of qualitative differences exist.3 These qualitative differences of the gene may result, of course, in gross changes in the quantitative activity of an enzyme as it acts upon a substrate. However, they do not express themselves as continuous quantitative changes in phenotype over a "normal" range of enzyme activity.

Such qualitative differences of serum cholinesterase (acylcholine acyl-hydrolase [IUB] )4 in man involve the "atypical" serum cholinesterase first described by Kalow,3 the C5 extra component which is most likely nonallelic with respect to the "atypical" gene5 a