Artículos de revistas
Genetic Studies Suggest A Novel Portuguese Origin For Hemoglobin Porto Alegre
Registro en:
Haematologica. , v. 89, n. 8, p. 1009 - 1010, 2004.
3906078
2-s2.0-3943103347
Autor
Faustina P.
Miranda A.
Picanco I.
Kimura E.M.
Ferreira Costa F.
Sonati M.D.F.
Institución
Resumen
Molecular studies performed in Portuguese and Brazilian cases of hemoglobin Porto Alegre [β9 Ser→Cys]Cy's 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. 89 8 1009 1010 Tondo, C.V., Salzano, F.M., Rucknagel, D.L., Hemoglobin Porto Alegre, a possible polymer of normal hemoglobin in a Caucasian Brazilian family (1963) Am J Hum Genet, 15, pp. 265-279 Seid-Akhavan, M., Ayres, M., Salzano, F.M., Winter, W.P., Rucknagel, D.L., Two more examples of Hb Porto Alegre, α-2 β-2 9 Ser leads to Cys in Belem, Brazil (1973) Hum Hered, 23, pp. 175-181 Gonçalves, M.S., Sonati, M.F., Kimura, M., Arruda, V.R., Costa, F.F., Netchtman, J.F., Association of Hb Santa Ana [a2b288(F4)Leu_Pro] and Hb Porto Alegre [α2β29(A6) Ser_Cys] in a Brazilian female (1994) Hemoglobin, 18, pp. 235-239 Martinez, G., Lima, F., Wade, M., Estrada, M., Colombo, B., Heredero, L., Hemoglobin Porto Alegre in a Cuban family (1977) J Med Genet, 14, pp. 422-425 Malcorra-Azpiazu, J.J., Wilson, J.B., Molchanova, T.P., Pobedimskaya, D.D., Huisman, T.H.J., Hb Porto Alegre or α2β29(A6) Ser_Cys in unrelated families of the Canary Islands (1993) Hemoglobin, 17, pp. 457-461 Leone, L., Monteleone, M., Gabutt, V., Amione, C., Reversed-phase high-performance liquid chromatography of human hemoglobin chains (1985) J Chromatography, 321, pp. 407-419 Miller, S.A., Dykes, D.D., Polesky, H.F., A simple salting-out procedure for extracting DNA from human nucleated cells (1988) Nucleic Acids Res, 16, p. 1215 Antonarakis, S.E., Kazazian Jr., H.H., Orkin, S.H., DNA polymorphism and molecular pathology of the human globin gene clusters (1985) Human Genetics, 69, pp. 1-14 http://www.canaryforum.com/gc/historical.htmlDe Azevedo, T., Antropologia (1986) Encicliopédia Luso-Brasileira da Cultura, pp. 1818-1911. , Verbo editor. Lisboa/S̈o Paulo