AbstractMolecular 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.
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Vol. 89 No. 8 (2004): August, 2004 : Letters to the Editor
Ferrata Storti Foundation, Pavia, Italy
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