A rare phenotype of phosphoglucomutase-2 first detected in Mongoloids.

In screening of the PGM system by isoelectric focusing a heterozygote with a rare allele of PGM2 was detected. Family studies and family register checkings for the propositus showed evidence of hereditary occurrence of this allele, and all the ancestors of the propositus were Japanese. Although there have been no reports among Mongoloids, the variant found in the present study is likely to be the first case of a rare phenotype of PGM2 among such populations. In addition, isoelectric focusing data on 411 Japanese samples are given.