Studies on Erythrocyte Pyruvate Kinase (PK) Variant : 1. Electrophoretic Screening for the Study of Genetic PK Polymorphism

Erythrocyte pyruvate kinase screening study was carried out by means of a thin layer polyacrylamide gel electrophoresis. A new pyruvate kinase variant was found in one out of the 1,015 healthy Japanese adults examined in this study. The propositus was a 35 year-old, healthy male who showed no signs of hemolysis. Pyruvate kinase of the propositus migrated faster to anode than those of normal subjects, although the erythrocyte pyruvate kinase activity was revealed to be within normal range. The erythrocyte pyruvate kinase of one of his elder brothers and one of his daughters showed the same electrophoretic pattern as that of the propositus. The propositus was considered to be heterozygous for the new pyruvate kinase variant.