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

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Título:	Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
Autor:	Manco, Licínio Gonçalves, Paula Antunes, Patrícia Maduro, Filomena Abade, Augusto Ribeiro, M. Letícia
Palavras-chave:	G6PD deficiency in Portugal; G6PD mutations; Haplotype analysis; G6PD microsatellites
Data:	2007
Editora:	Ferrata Storti Foundation
Citação:	Haematologica. 92:12 (2007) 1713-1714
Título da revista, periódico, livro ou evento:	Haematologica
Número:	12
Resumo:	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 (–/–/+/+/+/+)
URI:	https://hdl.handle.net/10316/13585
ISSN:	0390-6078
DOI:	10.3324/haematol.11670
Direitos:	openAccess
Aparece nas coleções:	I&D CIAS - Artigos em Revistas Internacionais FCTUC Ciências da Vida - Artigos em Revistas Internacionais

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