Negro Variant of Glucose-6-Phosphate Dehydrogenase Deficiency (A-) in Man

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Science  06 Jan 1967:
Vol. 155, Issue 3758, pp. 97-99
DOI: 10.1126/science.155.3758.97


Glucose-6-phosphate dehydrogenase in erythrocytes of the Negro type associated with enzyme deficiency (A-) was separated by chromatography on a carboxymethyl-Sephadex column from the electrophoretically indistinguishable Negro variant with normal enzyme activity (A+). Quantitative immunologic neutralization tests indicated that the A- enzyme had about the same enzymatic and serological activity as the A+ and the normal (B+) enzymes. The enzyme activity of the A- variant in young erythrocytes was similar to that in young cells from normal individuals, although the activity of the A- variant in unfractionated red cells was 10 to 15 percent of normal. These data indicate that the basic defect in the variant enzyme (A-) is a structural mutation which causes more rapid degradation of the enzyme during erythrocyte aging.