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Updated: Mar 30, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Isoelectric focusing studies on the PGM1 subtypes in the northern Japanese population
Abstract:
The distribution of the human red cell phosphoglucomutase (PGM1) subtypes in samples from Japanese population (n = 277) living in the Miyagi Prefecture, the northern part of Japan, was investigated by applying the thinlayer polyacrylamide gel isoelectric focusing. In our population sample all the ten common phenotypes were demonstrated, and the estimated allele frequencies for the genes PGM1+1, PGM1-1, PGM2+1, and PGM2-1 were 0.671, 0.107, 0.161, and 0.061, respectively. Family studies (n = 40) indicated an autosomal codominant inheritance and confirmed the four alleles. The new system will increase the probability of exclusion in paternity cases among Japanese to 29.4% compared with 14.3% if the two allele system is used.
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