Pirastru, Monica and Manca, Laura and Palici di Suni, Marcella and Speziga, Silvia Maria and Masala, Bruno Lucio (2005) Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser]: a novel variant of the Aγ chain having two substitutions, one being that of Hb F-Sardinia. Hemoglobin, Vol. 28 (4), p. 297-303. eISSN 1532-432X. Article.
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The abnormal Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser] was observed during a cord blood survey for hemoglobinopathies in North Sardinia. This silent variant showed the same mobility as Hb F-Sardinia in isoelectric focusing (IEF) of the tetramers, whereas the abnormal globin chain was clearly separated by acid-urea-Triton polyacrylamide gel electrophoresis (AUT-PAGE) from the normal Gγ- and Aγ-globin chains. Separation of the globin chains by reversed phase high performance liquid chromatography (HPLC) indicated the following percentages: Gγ 68.4, Aγ 14.0, Xγ 17.6, that strongly suggested the abnormal chain as being a variant of the Aγ-globin. Sequencing of the γ-globin genes indicated that the mutated gene was in fact an Aγ with two nucleotide replacements, one being the ATA→ACA (Ile→Thr) at codon 75 (the so-called AγT of the rather common Hb F-Sardinia) and the second the GCA→TCA (Ala→Ser) at codon 136. This new variant is the seventh having the sequence of the AγT chain with an additional mutation so far described and the third characterized by gene sequencing.
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