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J Clin Lab Anal. 2003;17(3):90-2.

Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene.

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Nursing Military Academy, Laboratory of Research, Athens, Greece.


In this study, we investigated whether glucose-6-phosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5' untranslated region (UTR) in 65 G6PD-deficient individuals, in which no mutations have been found in the G6PD gene coding sequences, using a nonradioactive polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP) analysis. We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus.

[Indexed for MEDLINE]

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