Haematologica (Dec 2007)

Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles

  • Licínio Manco,
  • Paula Gonçalves,
  • Patrícia Antunes,
  • Filomena Maduro,
  • Augusto Abade,
  • M. Letícia Ribeiro

DOI
https://doi.org/10.3324/haematol.11670
Journal volume & issue
Vol. 92, no. 12

Abstract

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G6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/PstI/BclI/NlaIII) and a (CTT)n microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-376G/202A variants (44/45) have a single haplotype (+/+/–/+/–/+/195). G6PD Betica376G/968C alleles (n=10) have a single RFLP haplotype (+/–/–/+/–/+) and 4 different (CTT)n repeats. Age estimates based on microsatellite variation suggest that Betica mutation arose 900 generations ago. G6PD SantaMaria376G/542T allele was found on haplotype (+/–/–/+/–/+/201) and 10 G6PD variants on RFLP haplotypes (–/–/+/+/–/–), (–/–/+/+/–/+) and (–/–/+/+/+/+).