Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: ...

• Author(s): Manco, Licínio ; Gonçalves, Paula ; Antunes, Patrícia ; Maduro, Filomena ; Abade, Augusto ; Ribeiro, M. Letícia
• Date: 2007
• Persistent ID: http://hdl.handle.net/10316/13585
• Origin: Estudo Geral - Universidade de Coimbra
• Subject(s): G6PD deficiency in Portugal; G6PD mutations; Haplotype analysis; G6PD microsatellites
• Document Type: Article
• Language: English

Description

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 (–/–/+/+/+/+)