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). 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.
Faustino
Paula
P
Miranda
Armandina
A
Picanço
Isabel
I
Kimura
Elza M
EM
Ferreira Costa
Fernando
F
de Fátima Sonati
Maria
M
D001483:Base Sequence; D001938:Brazil; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011174:Portugal / Q000208:ethnology
D006455:Hemoglobins, Abnormal; C034991:hemoglobin Porto Alegre