A new partially deficient variant in the phosphoglucomutase 1 system, PGM1*W31.
In a case of disputed paternity an inherited hyposynthetical variant of the PGM1*1A gene was identified. This variant could not be detected by conventional electrophoresis on cellulose acetate membranes but clearly appeared on polyacrylamide gels after isoelectric focusing. The enzyme activity of this variant was about 25% of the normal PGM1*1A protein. The variant was designated PGM1*W31.
D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics*; D008297:Male; D010334:Paternity; D010733:Phosphoglucomutase / Q000172:deficiency / Q000235:genetics*; D011110:Polymorphism, Genetic
D007527:Isoenzymes; D010733:Phosphoglucomutase