Novel point mutation in Exon 12 of the glucose-6-phosphate dehydrogenase gene

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...

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Bibliographic Details
Main Author: Rodrigues, MO (author)
Other Authors: Pereira, JD (author), Gaspar, G (author), Olim, G (author), Martins, MDC (author), Monteiro, C (author)
Format: article
Language:eng
Published: 2015
Subjects:
Online Access:http://hdl.handle.net/10451/21027
Country:Portugal
Oai:oai:repositorio.ul.pt:10451/21027
Description
Summary: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. (C) 2004 Wiley-Liss, Inc.