title: An AciI polymorphism in the 3' untranslated region of the human phosphomannomutase 2 (PMM2) gene.
abstract: We found an AciI 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 AciI 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Mizugishi
authors.forename: K
authors.initials: K
authors.lastname: Kuwajima
authors.forename: K
authors.initials: K
authors.lastname: Obata
authors.forename: I
authors.initials: I
authors.lastname: Kondo
mesh_terms: D020413:3' Untranslated Regions; D000483:Alleles; D018981:Congenital Disorders of Glycosylation / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D020413:3' Untranslated Regions; C066171:endodeoxyribonuclease AciI; D015252:Deoxyribonucleases, Type II Site-Specific; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase