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|Title:||Characterization and locus assignment of two α-globin variants present in the Maltese population : Hb St. Luke's [α95 (G2) Pro→ Arg] and Hb Setif [α94 (G1) Asp→ Tyr]|
|Authors:||Bezzina Wettinger, Stephanie|
Scerri, Christian A.
Felice, Alex E.
|Keywords:||Human genetics -- Variation|
Hemoglobin polymorphisims -- Malta
|Publisher:||Taylor & Francis|
|Citation:||Bezzina Wettinger, S., Galdies, R., Scerri, C., & Felice, A. E. (1999). Characterization and locus assignment of two α-globin variants present in the Maltese population: Hb St. Luke's [α95 (G2) Pro→ Arg] and Hb Setif [α94 (G1) Asp→ Tyr]. Hemoglobin, 23(2), 145-157.|
|Abstract:||Two types of α-globin variants were found in 0.2% of a large number of newborn from Malta. The two hemoglobins were identified from tryptic maps on a Vydac C18 column and by α-globin gene sequencing as Hb St. Luke's (isoelectric point = 7.18 ± 0.017) and Hb Setif (isoelectric point = 7.26 ± 0.010). Hb St. Luke's [α95(G2)Pro→Arg] was found to result from a C→G mutation at the second position of codon 95 on an α1-globin gene, and Hb Setif [α94(G1)Asp→Tyr] resulted from a G→T mutation at the first position of codon 94 on an α2-globin gene. Quantification of Hb St. Luke's (11.1 ± 1.12%) and Hb Setif (14.7 ± 2.22%) in peripheral blood hemolysates indicated that, in the absence of either an α- or a β-thalassemia allele, the protein products of the α1- and α2-globin genes were nearly equal in quantity.|
|Appears in Collections:||Scholarly Works - FacM&SPB|
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