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Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre

Faustino, P ; Miranda, A ; Picanco, I ; Kimura, EM ; Ferreira Costa, F ; de Fatima Sonati, M

Haematologica (Roma), 2004-08, Vol.89 (8), p.1009-1010 [Periódico revisado por pares]

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Título:
Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre
Autor: Faustino, P ; Miranda, A ; Picanco, I ; Kimura, EM ; Ferreira Costa, F ; de Fatima Sonati, M
Assuntos: Base Sequence ; Brazil ; Hemoglobins, Abnormal - genetics ; Humans ; Molecular Sequence Data ; Portugal - ethnology
É parte de: Haematologica (Roma), 2004-08, Vol.89 (8), p.1009-1010
Notas: SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
Descrição: Molecular studies performed in Portuguese and Brazilian cases of hemoglobin Porto Alegre [beta9 Ser->Cys] revealed that the mutation is in association with the Mediterranean haplotype I and framework 1 and that it is also in cis with an undescribed intragenic polymorphism (codon 27, GCC->GCT). Based upon these findings, and reinforced by historical data, we suggest that hemoglobin Porto Alegre originated from a single mutational event in the Portuguese population and was then spread to South America, namely to Brazil.
Editor: Italy
Idioma: Inglês

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