Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28024
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
Galdies, Ruth
Scerri, Christian A.
Felice, Alex E.
Keywords: Human genetics -- Variation
Thalassemia
Hemoglobin polymorphisims -- Malta
Issue Date: 1999
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.
URI: https://www.um.edu.mt/library/oar//handle/123456789/28024
Appears in Collections:Scholarly Works - FacM&SPB

Files in This Item:
File Description SizeFormat 
Characterization_and_locus_assignment_of_two_α-globin_variants_present_in_the_Maltese_population_1999.pdf
  Restricted Access
750 kBAdobe PDFView/Open Request a copy


Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.