This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Manco, L. Articles by Ribeiro, M. L. Search for Related Content PubMed PubMed Citation Articles by Manco, L. Articles by Ribeiro, M. L.

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

^* Departamento de Hematologia, Centro Hospitalar de Coimbra, Portugal;
^° Departamento de Antropologia, Universidade de Coimbra, Portugal;
^# Serviço de Hematologia, Hospital da Horta, Açores, Portugal

Correspondence: Maria Letícia Ribeiro, MD, PhD, Unidade de Hematologia Molecular, Hospital Pediátrico, Centro Hospitalar de Coimbra, 3000 Coimbra, Portugal. Phone: international +351.239480347. Fax: international +351.239.717216. E-mail: leticia.ribeiro{at}hpc.chc.min-saude.pt

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 Betica^376G/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 SantaMaria^376G/542T allele was found on haplotype (+/–/–/+/–/+/201) and 10 G6PD variants on RFLP haplotypes (–/–/+/+/–/–), (–/–/+/+/–/+) and (–/–/+/+/+/+).

Key words: G6PD deficiency in Portugal, G6PD mutations, haplotype analysis, G6PD microsatellites.