PGM1 null allele detected in a Caucasian mother-son pair.
The presence of a PGM1 null allele in a mother and her son was deduced from their inconsistent phenotypes. Quantitation studies were done to confirm the half-normal enzyme activity. Phenotype analysis of 29 additional genetic markers gave no indication of non-parentage, making non-maternity a very unlikely explanation for the discrepancy.
Ward
L J
LJ
Elston
R C
RC
Keats
B J
BJ
Graham
J B
JB
D000483:Alleles; D004592:Electrophoresis, Starch Gel; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D010733:Phosphoglucomutase / Q000235:genetics*
D010733:Phosphoglucomutase