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

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.

Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population

“…We reasonably infer that both arginine residues at codon 459 and 463 play an important role in anchoring NADP + to the catalytic domain to maintain the enzymatic activity. It is interesting that a C fi A point mutation at position 1387 with the consequent substitution of an Argine by Serine at codon 463 gives rise to a ''moderate rate of G6PD deficiency'' (12.6% of the normal activity) (Rodrigues et al 2004). On the other hand, the increased coenzyme biding is a compensation for the G6PD Gaohe.…”