Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES

Rodrigues, M.O.; Pereira, J.D.; Gaspar, G.; Olim, G.; Martins, M.C.; Monteiro, C.

http://hdl.handle.net/10400.18/347

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Abstract(s)

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.