Premium
Phosphoglucomutase 3: Formal and Population Genetics and Observations on Abnormal Phenotypes 1
Author(s) -
Rittner Ch.,
Kalbheim H.D.
Publication year - 1975
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.1975.tb00520.x
Subject(s) - phosphoglucomutase , genetics , locus (genetics) , phenotype , allele , biology , offspring , family studies , histocompatibility , genetic linkage , population , human leukocyte antigen , medicine , antigen , gene , pregnancy , biochemistry , enzyme , environmental health
. 514 healthy blood donors and 47 families with 122 offspring were studied for phosphoglucomutase 3 (PGM 3 ) 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 PGM 3 locus to the immunogenetic linkage group – the major histocompatibility complex – on chromosome No. 6 in man is discussed.