Phosphoglucomutase 3: formal and population genetics and observations on abnormal phenotypes

514 healthy blood donors and 47 families with 122 offspring were studied for phosphoglucomutase 3 (PGM3) from leukocytes. There was a good agreement of allelic frequencies obtained compared to those reported previously in Caucasians. In addition, three individuals with abnormal phenotypes were observed: one was a patient with Hodgkin's disease, the other two were apparently healthy blood donors. In two cases, family members could be studied; none carried the abnormal type of the father. The possible background of these observations with respect to the attachment of the PGM3 locus to the immunogenetic linkage group--the major histocompatibility complex--on chromosome No. 6 in man is discussed.