An AciI polymorphism in the 3′ untranslated region of the human phosphomannomutase 2 (PMM2) gene

We found an Aci I polymorphism in the 3′ untranslated region of the phosphomannomutase 2 ( PMM2 ) gene located at 16p13. A G-to-C transition at nucleotide position 96 bp downstream from the PMM2 stop codon was detected in polymerase chain reaction (PCR) products after Aci I digestion. The heterozygosity of the polymorphic alleles was 0.375 in a Japanese population. This polymorphism is useful for genetic analysis in patients with carbohydrate-deficient glycoprotein syndromes, of which there are four subtypes.