Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre

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)....

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Bibliographic Details
Published in:Haematologica (Roma) 2004-08, Vol.89 (8), p.1009-1010
Main Authors: Faustino, P, Miranda, A, Picanco, I, Kimura, EM, Ferreira Costa, F, de Fatima Sonati, M
Format: Article
Language:English
Subjects:
Base Sequence
Brazil
Hemoglobins, Abnormal - genetics
Humans
Molecular Sequence Data
Portugal - ethnology
Online Access:Get full text
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Summary: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.
ISSN:0390-6078
1592-8721