ISSN:
1435-232X
Keywords:
Key words Carbohydrate-deficient glycoprotein syndrome
;
Phosphomannomutase 2
;
Polymorphism
;
AciI digestion
;
Chromosome 16p13
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050157
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