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Title: Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
Authors: Manco, Licínio 
Gonçalves, Paula 
Antunes, Patrícia 
Maduro, Filomena 
Abade, Augusto 
Ribeiro, M. Letícia 
Keywords: G6PD deficiency in Portugal; G6PD mutations; Haplotype analysis; G6PD microsatellites
Issue Date: 2007
Publisher: Ferrata Storti Foundation
Citation: Haematologica. 92:12 (2007) 1713-1714
Serial title, monograph or event: Haematologica
Issue: 12
Abstract: 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 (–/–/+/+/+/+)
ISSN: 0390-6078
Rights: openAccess
Appears in Collections:I&D CIAS - Artigos em Revistas Internacionais
FCTUC Ciências da Vida - Artigos em Revistas Internacionais

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