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Novel point mutation in exon 12 of the glucose-6- Phosphate Dehydrogenase Gene: G6PD Flores

✍ Scribed by Maria-Odete Rodrigues; Júlia Dias Pereira; Gisela Gaspar; Gabriel Olim; Maria-do-Carmo Martins; Carolino Monteiro

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 82 KB
Volume: 18
Category: Article
ISSN: 0887-8013
DOI: 10.1002/jcla.20010

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✦ Synopsis

Abstract

In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a “moderate rate of G6PD deficiency” (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C→A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( – – + + – – ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow. J. Clin. Lab. Anal. 18:129–131, 2004. © 2004 Wiley‐Liss, Inc.

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