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

Detalhes bibliográficos
Autor(a) principal: Manco, Licínio
Data de Publicação: 2007
Outros Autores: Gonçalves, Paula, Antunes, Patrícia, Maduro, Filomena, Abade, Augusto, Ribeiro, M. Letícia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/13585
https://doi.org/10.3324/haematol.11670
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 (–/–/+/+/+/+)
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spelling Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated allelesG6PD deficiency in PortugalG6PD mutationsHaplotype analysisG6PD microsatellitesG6PD 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 (–/–/+/+/+/+)Ferrata Storti Foundation2007info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/13585http://hdl.handle.net/10316/13585https://doi.org/10.3324/haematol.11670engHaematologica. 92:12 (2007) 1713-17140390-6078Manco, LicínioGonçalves, PaulaAntunes, PatríciaMaduro, FilomenaAbade, AugustoRibeiro, M. Letíciainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2020-11-06T17:00:28Zoai:estudogeral.uc.pt:10316/13585Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:55:55.401485Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
title Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
spellingShingle Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
Manco, Licínio
G6PD deficiency in Portugal
G6PD mutations
Haplotype analysis
G6PD microsatellites
title_short Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
title_full Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
title_fullStr Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
title_full_unstemmed Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
title_sort Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
author Manco, Licínio
author_facet Manco, Licínio
Gonçalves, Paula
Antunes, Patrícia
Maduro, Filomena
Abade, Augusto
Ribeiro, M. Letícia
author_role author
author2 Gonçalves, Paula
Antunes, Patrícia
Maduro, Filomena
Abade, Augusto
Ribeiro, M. Letícia
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Manco, Licínio
Gonçalves, Paula
Antunes, Patrícia
Maduro, Filomena
Abade, Augusto
Ribeiro, M. Letícia
dc.subject.por.fl_str_mv G6PD deficiency in Portugal
G6PD mutations
Haplotype analysis
G6PD microsatellites
topic G6PD deficiency in Portugal
G6PD mutations
Haplotype analysis
G6PD microsatellites
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 (–/–/+/+/+/+)
publishDate 2007
dc.date.none.fl_str_mv 2007
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10316/13585
http://hdl.handle.net/10316/13585
https://doi.org/10.3324/haematol.11670
url http://hdl.handle.net/10316/13585
https://doi.org/10.3324/haematol.11670
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Haematologica. 92:12 (2007) 1713-1714
0390-6078
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Ferrata Storti Foundation
publisher.none.fl_str_mv Ferrata Storti Foundation
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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