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

✍ Scribed by Panayiotis G. Menounos; George A. Garinis; George P. Patrinos

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 116 KB
Volume: 17
Category: Article
ISSN: 0887-8013
DOI: 10.1002/jcla.10075

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✦ Synopsis

Abstract

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. J. Clin. Lab. Anal. 17:90–92, 2003. © 2003 Wiley‐Liss, Inc.

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