title: Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre.
abstract: 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.
authors.forename: Paula
authors.initials: P
authors.lastname: Faustino
authors.forename: Armandina
authors.initials: A
authors.lastname: Miranda
authors.forename: Isabel
authors.initials: I
authors.lastname: Picanço
authors.forename: Elza M
authors.initials: EM
authors.lastname: Kimura
authors.forename: Fernando
authors.initials: F
authors.lastname: Ferreira Costa
authors.forename: Maria
authors.initials: M
authors.lastname: de Fátima Sonati
mesh_terms: D001483:Base Sequence; D001938:Brazil; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011174:Portugal / Q000208:ethnology
chemical_list: D006455:Hemoglobins, Abnormal; C034991:hemoglobin Porto Alegre