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

descriptionPublicationkeyboard_double_arrow_right Article 01 Jul 1999 English Publisher:Springer Science and Business Media LLCJournal:Journal of Human Genetics, volume 44, pages 266-267 (issn: 1434-5161, eissn: 1435-232X,

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Authors: K, Mizugishi; K, Kuwajima; K, Obata; I, Kondo;

doi: 10.1007/s100380050157

pmid: 10429369

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

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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.

Related Organizations

University of Tokyo
Japan
Ehime University
Japan

Keywords

Male, Polymorphism, Genetic, Genotype, Genetic Linkage, Pedigree, Congenital Disorders of Glycosylation, Phosphotransferases (Phosphomutases), Humans, Female, Deoxyribonucleases, Type II Site-Specific, 3' Untranslated Regions, Alleles

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