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
Academic Article
Publication Date:
2004
Short description:
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 / Pirastru, Monica; Manca, Laura; PALICI DI SUNI, M.; Speziga, S. M.; Masala, Bruno Lucio. - In: HEMOGLOBIN. - ISSN 0363-0269. - 28:4(2004), pp. 297-303. [10.1081/HEM-200038868]
abstract:
The abnormal Hb F-Porto Torres [
Ag75(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
Gg- and Ag-globin chains. Separation of the globin chains by reversed phase high
performance liquid chromatography (HPLC) indicated the following percentages:
Gg
68.4,
Ag 14.0,
Xg 17.6, that strongly suggested the abnormal chain as being a variant of
the
Ag-globin. Sequencing of the g-globin genes indicated that the mutated gene was
in fact an Ag with two nucleotide replacements, one being the ATA!ACA (Ile!Thr)at codon 75 (the so-called AgT
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 AgT
chain with an additional mutation so far described and the third
characterized by gene sequencing.
Ag75(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
Gg- and Ag-globin chains. Separation of the globin chains by reversed phase high
performance liquid chromatography (HPLC) indicated the following percentages:
Gg
68.4,
Ag 14.0,
Xg 17.6, that strongly suggested the abnormal chain as being a variant of
the
Ag-globin. Sequencing of the g-globin genes indicated that the mutated gene was
in fact an Ag with two nucleotide replacements, one being the ATA!ACA (Ile!Thr)at codon 75 (the so-called AgT
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 AgT
chain with an additional mutation so far described and the third
characterized by gene sequencing.
Iris type:
1.1 Articolo in rivista
List of contributors:
Pirastru, Monica; Manca, Laura; PALICI DI SUNI, M.; Speziga, S. M.; Masala, Bruno Lucio
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